Renzo Guerrini (R Guerrini)

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 98

Top Topics

Gene Expression

Intellectual Disability

Temporal Lobe Epilepsy

Top Venues

Expert review of neurotherapeutics

This page only lists publications with an associated author ORCID identifier.

Publications

Giosuè Annibalini, Laura Di Patria, Giacomo Valli, Matteo Bocconcelli, Roberta Saltarelli, Lorenzo Ferri, Laura Barberi, Fabiana Fanelli, Amelia Morrone, Rita Barone, Renzo Guerrini, Antonio Musarò, Vilberto Stocchi, Elena Barbieri
Impaired myoblast differentiation and muscle IGF-1 receptor signaling pathway activation after N-glycosylation inhibition. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 38 (13) (2024)
Ingrid Eileen Scheffer, Sameer M Zuberi, Heather C Mefford, Renzo Guerrini, Amy McTague
Developmental and epileptic encephalopathies. Nature reviews. Disease primers 10 (1) (2024)
Ingrid Eileen Scheffer, Sameer M Zuberi, Heather C Mefford, Renzo Guerrini, Amy McTague
Author Correction: Developmental and epileptic encephalopathies. Nature reviews. Disease primers 10 (1) (2024)
Carmen Barba, Veronica Pelliccia, Laura Grisotto, Luca De Palma, Giulia Nobile, Francesca Gozzo, Martina Revay, Giusy Carfi-Pavia, Massimo Cossu, Flavio Giordano, Alessandro Consales, De Benedictis Alessandro, Elena Cavallini, Cristina Mion, Claudia Accolla, Nicola Specchio, Lino Nobili, Renzo Guerrini, Laura Tassi
Trends, outcomes, and complications of surgery for lesional epilepsy in infants and toddlers: A multicenter study. Epilepsia open (2024)
Matteo Lenge, Simona Balestrini, Antonio Napolitano, Davide Mei, Valerio Conti, Giulia Baldassarri, Marina Trivisano, Simona Pellacani, Letizia Macconi, Daniela Longo, Maria Camilla Rossi Espagnet, Simona Cappelletti, null null, Ludovico D'Incerti, Carmen Barba, Nicola Specchio, Renzo Guerrini
Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy. Translational psychiatry 14 (1) (2024)
Maurits W C B Sanders, Iskander Van der Wolf, Floortje E Jansen, Eleonora M A Aronica, Christoph Helmstaedter, Attila Racz, Rainer Surges, Alexander Grote, Albert J Becker, Sylvain Rheims, Helene Catenoix, John Sidney Duncan, Jane de Tisi, Thomas S Jacques, Judith Helen Cross, Reetta Kalviainen, Tuomas Rauramaa, Francine Chassoux, Bertrand C Devaux, Giancarlo Di Gennaro, Vincenzo Esposito, Istvan Bodi, Mrinalini Honavar, Christian G Bien, Thomas Cloppenborg, Roland Coras, Hajo M Hamer, Petr Marusic, Adam Kalina, Tom Pieper, Manfred Kudernatsch, Till S Hartlieb, Tim J von Oertzen, Martin Aichholzer, Georg Dorfmuller, Mathilde Chipaux, Soheyl Noachtar, Elisabeth Kaufmann, Andreas Schulze-Bonhage, Christian F Scheiwe, Çiğdem Özkara, Thomas Grunwald, Kristina Koenig, Renzo Guerrini, Carmen Barba, Anna Maria Buccoliero, Flavio Giordano, Felix Rosenow, Katja Menzler, Rita Garbelli, Francesca Anzellotti, Pavel Krsek, Barbora Benova, Alexis A Arzimanoglou, Joseph Toulouse, Wim van Paesschen, Tom Theys, José Pimentel, Isabel M Loução De Amorim, Nicola Specchio, Luca De Palma, Martha Feucht, Theresa Scholl, Karl Roessler, Rafael Toledano-Delgado, Antonio Gil-Nagel, Savo Raicevic, Aleksandar J Ristic, Olaf Schijns, Jan Beckervordersandforth, Victoria San Antonio-Arce, Jordi Rumia, Ingmar Bluemcke, Kees P J Braun, null null
Outcome of Epilepsy Surgery in MRI-Negative Patients Without Histopathologic Abnormalities in the Resected Tissue. Neurology 102 (4) (2024)
Renzo Guerrini, Laurent Chancharme, Benjamin Serraz, Catherine Chiron
Additional Results from Two Randomized, Placebo-Controlled Trials of Stiripentol in Dravet Syndrome Highlight a Rapid Antiseizure Efficacy with Longer Seizure-Free Periods. Neurology and therapy 13 (3) (2024)
Judy Chen, Alexander Ngo, Raul Rodriguez-Cruces, Jessica Royer, Maria Eugenia Caligiuri, Antonio Gambardella, Luis Concha, Simon S Keller, Fernando Cendes, Clarissa Lin Yasuda, Marina K M Alvim, Leonardo Bonilha, Ezequiel L Gleichgerrcht, Niels K Focke, Barbara A K Kreilkamp, Martin Domin, Felix von Podewils, Soenke Langner, Christian Rummel, Roland Wiest, Pascal Martin, Kotikalapudi Raviteja, Benjamin Bender, Terence J O'Brien, Benjamin Sinclair, Lucy E Vivash, Patrick Kwan, Patricia M Desmond, Elaine H Lui, Gian Marco Duma, Paolo Bonanni, Alice Ballerini, Anna Elisabetta Vaudano, Stefano Meletti, Manuela Tondelli, Saud Alhusaini, Colin P Doherty, Gianpiero L Cavalleri, Norman Delanty, Reetta Kälviäinen, Graeme D Jackson, Magdalena Kowalczyk, Mario Mascalchi, Mira Semmelroch, Rhys Huw Thomas, Hamid Soltanian-Zadeh, Esmaeil Davoodi-Bojd, Junsong Zhang, Matteo Lenge, Renzo Guerrini, Emanuele Bartolini, Khalid Hamandi, Sonya F Foley, Theodor Ruber, Tobias Bauer, Bernd Weber, Benoit Caldairou, Chantal Depondt, Julie Absil, Sarah J A Carr, Eugenio Abela, Mark P Richardson, Orrin Devinsky, Heath R Pardoe, Mariasavina Severino, Pasquale Striano, Domenico Tortora, Erik Kaestner, Sean N Hatton, Donatello Arienzo, Sjoerd B Vos, Mina Ryten, Peter Neal Taylor, John Sidney Duncan, Christopher D Whelan, Marian Galovic, Gavin P Winston, Sophia I Thomopoulos, Paul M Thompson, Sanjay M Sisodiya, Angelo Labate, Carrie R McDonald, Lorenzo Caciagli, Neda Bernasconi, Andrea Bernasconi, Sara Lariviere, Dewi Schrader, Boris C Bernhardt
A worldwide ENIGMA study on epilepsy-related gray and white matter compromise across the adult lifespan. bioRxiv : the preprint server for biology (2024)
Elena Parrini, Simona Balestrini, Domenico Rutigliano, Maria Luisa Ricci, Davide Mei, Renzo Guerrini
Bilateral Perisylvian Polymicrogyria, Intellectual Disability and Nephronophthisis Associated With Compound Heterozygous Pathogenic Variants in the CEP83 Gene. American journal of medical genetics. Part A (2024)
Carmen Barba, Veronica Pelliccia, Laura Grisotto, Luca De Palma, Giulia Nobile, Francesca Gozzo, Martina Revay, Giusy Carfi-Pavia, Massimo Cossu, Flavio Giordano, Alessandro Consales, De Benedictis Alessandro, Elena Cavallini, Cristina Mion, Claudia Accolla, Nicola Specchio, Lino Nobili, Renzo Guerrini, Laura Tassi
Trends, outcomes, and complications of surgery for lesional epilepsy in infants and toddlers: A multicenter study. Epilepsia open (2024)
Carmen Barba, Veronica Pelliccia, Laura Grisotto, Luca De Palma, Giulia Nobile, Francesca Gozzo, Martina Revay, Giusy Carfi-Pavia, Massimo Cossu, Flavio Giordano, Alessandro Consales, De Benedictis Alessandro, Elena Cavallini, Cristina Mion, Claudia Accolla, Nicola Specchio, Lino Nobili, Renzo Guerrini, Laura Tassi
Trends, outcomes, and complications of surgery for lesional epilepsy in infants and toddlers: A multicenter study. Epilepsia open 9 (4) (2024)
Matteo Lenge, Simona Balestrini, Antonio Napolitano, Davide Mei, Valerio Conti, Giulia Baldassarri, Marina Trivisano, Simona Pellacani, Letizia Macconi, Daniela Longo, Maria Camilla Rossi Espagnet, Simona Cappelletti, null null, Ludovico D'Incerti, Carmen Barba, Nicola Specchio, Renzo Guerrini
Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy. Translational psychiatry 14 (1) (2024)
Valentina Cetica, Tiziana Pisano, Gaëtan Lesca, Dana Marafi, Laura Licchetta, Florence Riccardi, Davide Mei, Hon-Yin B Chung, Carolina Alvarez, Meena Balasubramanian, Daniel H Lowenstein, Milda Endzinienė, Maha Alotaibi, Nathalie Villeneuve, Julia Jacobs, Bertrand Isidor, Roberta Solazzi, Nicolette S den Hollander, Dragan Marjanovic, Christelle Rougeot-Jung, Julien Jung, Marion Lesieur-Sebellin, Andrea Accogli, Vincenzo Salpietro, Nebal W Saadi, Eleni Panagiotakaki, Thomas Foiadelli, Sylvia Redon, Meng-Han Tsai, Francesca Bisulli, Trine B Hammer, James R Lupski, Elena Parrini, Renzo Guerrini, null null
Clinical and molecular characterization of patients with YWHAG-related epilepsy. Epilepsia 65 (5) (2024)
Valentina Cetica, Tiziana Pisano, Gaëtan Lesca, Dana Marafi, Laura Licchetta, Florence Riccardi, Davide Mei, Hon-Yin B Chung, Carolina Alvarez, Meena Balasubramanian, Daniel H Lowenstein, Milda Endzinienė, Maha Alotaibi, Nathalie Villeneuve, Julia Jacobs, Bertrand Isidor, Roberta Solazzi, Nicolette S den Hollander, Dragan Marjanovic, Christelle Rougeot-Jung, Julien Jung, Marion Lesieur-Sebellin, Andrea Accogli, Vincenzo Salpietro, Nebal W Saadi, Eleni Panagiotakaki, Thomas Foiadelli, Sylvia Redon, Meng-Han Tsai, Francesca Bisulli, Trine B Hammer, James R Lupski, Elena Parrini, Renzo Guerrini, null null
Clinical and molecular characterization of patients with YWHAG-related epilepsy. Epilepsia (2024)
Carmen Barba, Veronica Pelliccia, Laura Grisotto, Luca De Palma, Giulia Nobile, Francesca Gozzo, Martina Revay, Giusy Carfi-Pavia, Massimo Cossu, Flavio Giordano, Alessandro Consales, De Benedictis Alessandro, Elena Cavallini, Cristina Mion, Claudia Accolla, Nicola Specchio, Lino Nobili, Renzo Guerrini, Laura Tassi
Trends, outcomes, and complications of surgery for lesional epilepsy in infants and toddlers: A multicenter study. Epilepsia open 9 (4) (2024)
Giosuè Annibalini, Laura Di Patria, Giacomo Valli, Matteo Bocconcelli, Roberta Saltarelli, Lorenzo Ferri, Laura Barberi, Fabiana Fanelli, Amelia Morrone, Rita Barone, Renzo Guerrini, Antonio Musarò, Vilberto Stocchi, Elena Barbieri
Impaired myoblast differentiation and muscle IGF-1 receptor signaling pathway activation after N-glycosylation inhibition. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 38 (13) (2024)
Renzo Guerrini, Laurent Chancharme, Benjamin Serraz, Catherine Chiron
Additional Results from Two Randomized, Placebo-Controlled Trials of Stiripentol in Dravet Syndrome Highlight a Rapid Antiseizure Efficacy with Longer Seizure-Free Periods. Neurology and therapy 13 (3) (2024)
Renzo Guerrini, Laurent Chancharme, Benjamin Serraz, Catherine Chiron
Additional Results from Two Randomized, Placebo-Controlled Trials of Stiripentol in Dravet Syndrome Highlight a Rapid Antiseizure Efficacy with Longer Seizure-Free Periods. Neurology and therapy 13 (3) (2024)
Maurits W C B Sanders, Iskander Van der Wolf, Floortje E Jansen, Eleonora M A Aronica, Christoph Helmstaedter, Attila Racz, Rainer Surges, Alexander Grote, Albert J Becker, Sylvain Rheims, Helene Catenoix, John Sidney Duncan, Jane de Tisi, Thomas S Jacques, Judith Helen Cross, Reetta Kalviainen, Tuomas Rauramaa, Francine Chassoux, Bertrand C Devaux, Giancarlo Di Gennaro, Vincenzo Esposito, Istvan Bodi, Mrinalini Honavar, Christian G Bien, Thomas Cloppenborg, Roland Coras, Hajo M Hamer, Petr Marusic, Adam Kalina, Tom Pieper, Manfred Kudernatsch, Till S Hartlieb, Tim J von Oertzen, Martin Aichholzer, Georg Dorfmuller, Mathilde Chipaux, Soheyl Noachtar, Elisabeth Kaufmann, Andreas Schulze-Bonhage, Christian F Scheiwe, Çiğdem Özkara, Thomas Grunwald, Kristina Koenig, Renzo Guerrini, Carmen Barba, Anna Maria Buccoliero, Flavio Giordano, Felix Rosenow, Katja Menzler, Rita Garbelli, Francesca Anzellotti, Pavel Krsek, Barbora Benova, Alexis A Arzimanoglou, Joseph Toulouse, Wim van Paesschen, Tom Theys, José Pimentel, Isabel M Loução De Amorim, Nicola Specchio, Luca De Palma, Martha Feucht, Theresa Scholl, Karl Roessler, Rafael Toledano-Delgado, Antonio Gil-Nagel, Savo Raicevic, Aleksandar J Ristic, Olaf Schijns, Jan Beckervordersandforth, Victoria San Antonio-Arce, Jordi Rumia, Ingmar Bluemcke, Kees P J Braun, null null
Outcome of Epilepsy Surgery in MRI-Negative Patients Without Histopathologic Abnormalities in the Resected Tissue. Neurology 102 (4) (2024)
Renzo Guerrini, Laurent Chancharme, Benjamin Serraz, Catherine Chiron
Additional Results from Two Randomized, Placebo-Controlled Trials of Stiripentol in Dravet Syndrome Highlight a Rapid Antiseizure Efficacy with Longer Seizure-Free Periods. Neurology and therapy (2024)
Simone Gasparini, Simona Balestrini, Luigi Francesco Saccaro, Giacomo Bacci, Giorgia Panichella, Martino Montomoli, Gaetano Cantalupo, Stefania Bigoni, Giorgia Mancano, Simona Pellacani, Vincenzo Leuzzi, Nila Volpi, Francesco Mari, Federico Melani, Mara Cavallin, Tiziana Pisano, Giulio Porcedda, Augusto Vaglio, Davide Mei, Carmen Barba, Elena Parrini, Renzo Guerrini
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Maurits W C B Sanders, Iskander Van der Wolf, Floortje E Jansen, Eleonora M A Aronica, Christoph Helmstaedter, Attila Racz, Rainer Surges, Alexander Grote, Albert J Becker, Sylvain Rheims, Helene Catenoix, John Sidney Duncan, Jane de Tisi, Thomas S Jacques, Judith Helen Cross, Reetta Kalviainen, Tuomas Rauramaa, Francine Chassoux, Bertrand C Devaux, Giancarlo Di Gennaro, Vincenzo Esposito, Istvan Bodi, Mrinalini Honavar, Christian G Bien, Thomas Cloppenborg, Roland Coras, Hajo M Hamer, Petr Marusic, Adam Kalina, Tom Pieper, Manfred Kudernatsch, Till S Hartlieb, Tim J von Oertzen, Martin Aichholzer, Georg Dorfmuller, Mathilde Chipaux, Soheyl Noachtar, Elisabeth Kaufmann, Andreas Schulze-Bonhage, Christian F Scheiwe, Çiğdem Özkara, Thomas Grunwald, Kristina Koenig, Renzo Guerrini, Carmen Barba, Anna Maria Buccoliero, Flavio Giordano, Felix Rosenow, Katja Menzler, Rita Garbelli, Francesca Anzellotti, Pavel Krsek, Barbora Benova, Alexis A Arzimanoglou, Joseph Toulouse, Wim van Paesschen, Tom Theys, José Pimentel, Isabel M Loução De Amorim, Nicola Specchio, Luca De Palma, Martha Feucht, Theresa Scholl, Karl Roessler, Rafael Toledano-Delgado, Antonio Gil-Nagel, Savo Raicevic, Aleksandar J Ristic, Olaf Schijns, Jan Beckervordersandforth, Victoria San Antonio-Arce, Jordi Rumia, Ingmar Bluemcke, Kees P J Braun, null null
Outcome of Epilepsy Surgery in MRI-Negative Patients Without Histopathologic Abnormalities in the Resected Tissue. Neurology 102 (4) (2024)
Carmen Barba, Veronica Pelliccia, Laura Grisotto, Luca De Palma, Giulia Nobile, Francesca Gozzo, Martina Revay, Giusy Carfi-Pavia, Massimo Cossu, Flavio Giordano, Alessandro Consales, De Benedictis Alessandro, Elena Cavallini, Cristina Mion, Claudia Accolla, Nicola Specchio, Lino Nobili, Renzo Guerrini, Laura Tassi
Trends, outcomes, and complications of surgery for lesional epilepsy in infants and toddlers: A multicenter study. Epilepsia open 9 (4) (2024)
Valentina Cetica, Tiziana Pisano, Gaëtan Lesca, Dana Marafi, Laura Licchetta, Florence Riccardi, Davide Mei, Hon-Yin B Chung, Carolina Alvarez, Meena Balasubramanian, Daniel H Lowenstein, Milda Endzinienė, Maha Alotaibi, Nathalie Villeneuve, Julia Jacobs, Bertrand Isidor, Roberta Solazzi, Nicolette S den Hollander, Dragan Marjanovic, Christelle Rougeot-Jung, Julien Jung, Marion Lesieur-Sebellin, Andrea Accogli, Vincenzo Salpietro, Nebal W Saadi, Eleni Panagiotakaki, Thomas Foiadelli, Sylvia Redon, Meng-Han Tsai, Francesca Bisulli, Trine B Hammer, James R Lupski, Elena Parrini, Renzo Guerrini, null null
Clinical and molecular characterization of patients with YWHAG-related epilepsy. Epilepsia 65 (5) (2024)
Valentina Cetica, Tiziana Pisano, Gaëtan Lesca, Dana Marafi, Laura Licchetta, Florence Riccardi, Davide Mei, Hon-Yin B Chung, Carolina Alvarez, Meena Balasubramanian, Daniel H Lowenstein, Milda Endzinienė, Maha Alotaibi, Nathalie Villeneuve, Julia Jacobs, Bertrand Isidor, Roberta Solazzi, Nicolette S den Hollander, Dragan Marjanovic, Christelle Rougeot-Jung, Julien Jung, Marion Lesieur-Sebellin, Andrea Accogli, Vincenzo Salpietro, Nebal W Saadi, Eleni Panagiotakaki, Thomas Foiadelli, Sylvia Redon, Meng-Han Tsai, Francesca Bisulli, Trine B Hammer, James R Lupski, Elena Parrini, Renzo Guerrini, null null
Clinical and molecular characterization of patients with YWHAG-related epilepsy. Epilepsia 65 (5) (2024)
Renzo Guerrini, Laurent Chancharme, Benjamin Serraz, Catherine Chiron
Additional Results from Two Randomized, Placebo-Controlled Trials of Stiripentol in Dravet Syndrome Highlight a Rapid Antiseizure Efficacy with Longer Seizure-Free Periods. Neurology and therapy 13 (3) (2024)
Judy Chen, Alexander Ngo, Raul Rodriguez-Cruces, Jessica Royer, Maria Eugenia Caligiuri, Antonio Gambardella, Luis Concha, Simon S Keller, Fernando Cendes, Clarissa Lin Yasuda, Marina K M Alvim, Leonardo Bonilha, Ezequiel L Gleichgerrcht, Niels K Focke, Barbara A K Kreilkamp, Martin Domin, Felix von Podewils, Soenke Langner, Christian Rummel, Roland Wiest, Pascal Martin, Kotikalapudi Raviteja, Benjamin Bender, Terence J O'Brien, Benjamin Sinclair, Lucy E Vivash, Patrick Kwan, Patricia M Desmond, Elaine H Lui, Gian Marco Duma, Paolo Bonanni, Alice Ballerini, Anna Elisabetta Vaudano, Stefano Meletti, Manuela Tondelli, Saud Alhusaini, Colin P Doherty, Gianpiero L Cavalleri, Norman Delanty, Reetta Kälviäinen, Graeme D Jackson, Magdalena Kowalczyk, Mario Mascalchi, Mira Semmelroch, Rhys Huw Thomas, Hamid Soltanian-Zadeh, Esmaeil Davoodi-Bojd, Junsong Zhang, Matteo Lenge, Renzo Guerrini, Emanuele Bartolini, Khalid Hamandi, Sonya F Foley, Theodor Ruber, Tobias Bauer, Bernd Weber, Benoit Caldairou, Chantal Depondt, Julie Absil, Sarah J A Carr, Eugenio Abela, Mark P Richardson, Orrin Devinsky, Heath R Pardoe, Mariasavina Severino, Pasquale Striano, Domenico Tortora, Erik Kaestner, Sean N Hatton, Donatello Arienzo, Sjoerd B Vos, Mina Ryten, Peter Neal Taylor, John Sidney Duncan, Christopher D Whelan, Marian Galovic, Gavin P Winston, Sophia I Thomopoulos, Paul M Thompson, Sanjay M Sisodiya, Angelo Labate, Carrie R McDonald, Lorenzo Caciagli, Neda Bernasconi, Andrea Bernasconi, Sara Lariviere, Dewi Schrader, Boris C Bernhardt
A WORLDWIDE ENIGMA STUDY ON EPILEPSY-RELATED GRAY AND WHITE MATTER COMPROMISE ACROSS THE ADULT LIFESPAN. bioRxiv : the preprint server for biology (2024)
Maurits W C B Sanders, Iskander Van der Wolf, Floortje E Jansen, Eleonora M A Aronica, Christoph Helmstaedter, Attila Racz, Rainer Surges, Alexander Grote, Albert J Becker, Sylvain Rheims, Helene Catenoix, John Sidney Duncan, Jane de Tisi, Thomas S Jacques, Judith Helen Cross, Reetta Kalviainen, Tuomas Rauramaa, Francine Chassoux, Bertrand C Devaux, Giancarlo Di Gennaro, Vincenzo Esposito, Istvan Bodi, Mrinalini Honavar, Christian G Bien, Thomas Cloppenborg, Roland Coras, Hajo M Hamer, Petr Marusic, Adam Kalina, Tom Pieper, Manfred Kudernatsch, Till S Hartlieb, Tim J von Oertzen, Martin Aichholzer, Georg Dorfmuller, Mathilde Chipaux, Soheyl Noachtar, Elisabeth Kaufmann, Andreas Schulze-Bonhage, Christian F Scheiwe, Çiğdem Özkara, Thomas Grunwald, Kristina Koenig, Renzo Guerrini, Carmen Barba, Anna Maria Buccoliero, Flavio Giordano, Felix Rosenow, Katja Menzler, Rita Garbelli, Francesca Anzellotti, Pavel Krsek, Barbora Benova, Alexis A Arzimanoglou, Joseph Toulouse, Wim van Paesschen, Tom Theys, José Pimentel, Isabel M Loução De Amorim, Nicola Specchio, Luca De Palma, Martha Feucht, Theresa Scholl, Karl Roessler, Rafael Toledano-Delgado, Antonio Gil-Nagel, Savo Raicevic, Aleksandar J Ristic, Olaf Schijns, Jan Beckervordersandforth, Victoria San Antonio-Arce, Jordi Rumia, Ingmar Bluemcke, Kees P J Braun, null null
Outcome of Epilepsy Surgery in MRI-Negative Patients Without Histopathologic Abnormalities in the Resected Tissue. Neurology 102 (4) (2024)
Matteo Lenge, Simona Balestrini, Antonio Napolitano, Davide Mei, Valerio Conti, Giulia Baldassarri, Marina Trivisano, Simona Pellacani, Letizia Macconi, Daniela Longo, Maria Camilla Rossi Espagnet, Simona Cappelletti, null null, Ludovico D'Incerti, Carmen Barba, Nicola Specchio, Renzo Guerrini
Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy. Translational psychiatry 14 (1) (2024)
Maurits W C B Sanders, Iskander Van der Wolf, Floortje E Jansen, Eleonora M A Aronica, Christoph Helmstaedter, Attila Racz, Rainer Surges, Alexander Grote, Albert J Becker, Sylvain Rheims, Helene Catenoix, John Sidney Duncan, Jane de Tisi, Thomas S Jacques, Judith Helen Cross, Reetta Kalviainen, Tuomas Rauramaa, Francine Chassoux, Bertrand C Devaux, Giancarlo Di Gennaro, Vincenzo Esposito, Istvan Bodi, Mrinalini Honavar, Christian G Bien, Thomas Cloppenborg, Roland Coras, Hajo M Hamer, Petr Marusic, Adam Kalina, Tom Pieper, Manfred Kudernatsch, Till S Hartlieb, Tim J von Oertzen, Martin Aichholzer, Georg Dorfmuller, Mathilde Chipaux, Soheyl Noachtar, Elisabeth Kaufmann, Andreas Schulze-Bonhage, Christian F Scheiwe, Çiğdem Özkara, Thomas Grunwald, Kristina Koenig, Renzo Guerrini, Carmen Barba, Anna Maria Buccoliero, Flavio Giordano, Felix Rosenow, Katja Menzler, Rita Garbelli, Francesca Anzellotti, Pavel Krsek, Barbora Benova, Alexis A Arzimanoglou, Joseph Toulouse, Wim van Paesschen, Tom Theys, José Pimentel, Isabel M Loução De Amorim, Nicola Specchio, Luca De Palma, Martha Feucht, Theresa Scholl, Karl Roessler, Rafael Toledano-Delgado, Antonio Gil-Nagel, Savo Raicevic, Aleksandar J Ristic, Olaf Schijns, Jan Beckervordersandforth, Victoria San Antonio-Arce, Jordi Rumia, Ingmar Bluemcke, Kees P J Braun, null null
Outcome of Epilepsy Surgery in MRI-Negative Patients Without Histopathologic Abnormalities in the Resected Tissue. Neurology 102 (4) (2024)
Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, Tiziana Pisano, Laloe Monteiro, Noémie Penaud, Christian M Korff, Joël Fluss, Carla Marini, Elisabetta Cesaroni, Blanca Mercedes Alvarez, Damien Sanlaville, Nicolas Chatron, Alexis A Arzimanoglou, Audrey Labalme, Vishnu Anand Cuddapah, Sarah M Ruggiero, Francois Lecoquierre, Gaël Nicolas, Guerrot Anne Marie, Axel Lebas, Herve O Testard, Katherine L Helbig, Anna Ruiz, Adeline Ngoh, Manju A Kurian, Kimberley Reid, Robert V V Spaull, Pascal Joset, Georgia Ramantani, Katharina Steindl, Martin Krenn, Lucia Gerstl, Silvia Vieker, Dana Craiu, Manuela Pendziwiat, Chad Haldeman-Englert, Ilya V Kanivets, Irina Romanova, Deepa S Rajan, Jill Anne Rosenfeld, Margaret Au, Katheryn Lynn Grand, John M Graham, Arnaud Isapof, Nathalie Villeneuve, Thomas Smol, Roseline Caumes, Pia Zacher, Sonja Neuser, Sigrid Tinschert, Konrad Platzer, Bartolomaeus Tobias, Ines Mohnke, Maximilian Radtke, Rami Abou Jamra, Ingo Helbig, Floortje E Jansen, Klaas Koop, Gabrielle Rudolf, Sébastien Küry, Julien Courchet, Renzo Guerrini, Gaëtan Lesca
Molecular and Phenotypic Characterization of the RORB -Related Disorder. Neurology 102 (2) (2023)
Joseph Sullivan, Lieven Lagae, Judith Helen Cross, Orrin Devinsky, Renzo Guerrini, Kelly G Knupp, Linda Laux, Marina Nikanorova, Tilman Polster, Dinesh Talwar, Berten Ceulemans, Rima Nabbout, Gail M Farfel, Bradley S Galer, Arnold R Gammaitoni, Michael Lock, Anupam Agarwal, Ingrid Eileen Scheffer, null null
Fenfluramine in the treatment of Dravet syndrome: Results of a third randomized, placebo-controlled clinical trial. Epilepsia (2023)
Flavio Villani, Vittoria Cianci, Carlo Di Bonaventura, Giancarlo Di Gennaro, Carlo Andrea Galimberti, Renzo Guerrini, Angela La Neve, Oriano Mecarelli, Nicola Pietrafusa, Nicola Specchio, Federico Vigevano, Emilio Perucca
Use of cenobamate for the treatment of focal epilepsy: an Italian expert opinion paper. Expert review of neurotherapeutics 22 (11-12) (2023)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Flavio Villani, Vittoria Cianci, Carlo Di Bonaventura, Giancarlo Di Gennaro, Carlo Andrea Galimberti, Renzo Guerrini, Angela La Neve, Oriano Mecarelli, Nicola Pietrafusa, Nicola Specchio, Federico Vigevano, Emilio Perucca
Use of cenobamate for the treatment of focal epilepsy: an Italian expert opinion paper. Expert review of neurotherapeutics 22 (11-12) (2023)
Flavio Villani, Vittoria Cianci, Carlo Di Bonaventura, Giancarlo Di Gennaro, Carlo Andrea Galimberti, Renzo Guerrini, Angela La Neve, Oriano Mecarelli, Nicola Pietrafusa, Nicola Specchio, Federico Vigevano, Emilio Perucca
Use of cenobamate for the treatment of focal epilepsy: an Italian expert opinion paper. Expert review of neurotherapeutics 22 (11-12) (2023)
Evelina Carapancea, Marie-Coralie Cornet, Mathieu Milh, Lucrezia De Cosmo, Eric J Huang, Tiziana Granata, Pasquale Striano, Berten Ceulemans, Anja Stein, Deborah J Morris-Rosendahl, Greta Conti, Nipa Mitra, F Lucy Raymond, David H Rowitch, Roberta Solazzi, Fabiana Vercellino, Paola De Liso, Gianluca D'Onofrio, Clementina Boniver, Olivier Danhaive, Katherine Carkeek, Vincenzo Salpietro, Sarah Weckhuysen, Marny Fedrigo, Annalisa Angelini, Barbara Castellotti, Damien Lederer, Valérie Benoit, Federico Raviglione, Renzo Guerrini, Robertino Dilena, Maria Roberta Cilio
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy. Neurology 100 (12) (2023)
Claudia Nesti, Chiara Ticci, Anna Rubegni, Stefano Doccini, Giusi Scaturro, Annalisa Vetro, Renzo Guerrini, Filippo Maria Santorelli, Elena Procopio
Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome. Journal of neurology (2023)
Evelina Carapancea, Marie-Coralie Cornet, Mathieu Milh, Lucrezia De Cosmo, Eric J Huang, Tiziana Granata, Pasquale Striano, Berten Ceulemans, Anja Stein, Deborah J Morris-Rosendahl, Greta Conti, Nipa Mitra, F Lucy Raymond, David H Rowitch, Roberta Solazzi, Fabiana Vercellino, Paola De Liso, Gianluca D'Onofrio, Clementina Boniver, Olivier Danhaive, Katherine Carkeek, Vincenzo Salpietro, Sarah Weckhuysen, Marny Fedrigo, Annalisa Angelini, Barbara Castellotti, Damien Lederer, Valérie Benoit, Federico Raviglione, Renzo Guerrini, Robertino Dilena, Maria Roberta Cilio
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy. Neurology 100 (12) (2023)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Flavio Villani, Vittoria Cianci, Carlo Di Bonaventura, Giancarlo Di Gennaro, Carlo Andrea Galimberti, Renzo Guerrini, Angela La Neve, Oriano Mecarelli, Nicola Pietrafusa, Nicola Specchio, Federico Vigevano, Emilio Perucca
Use of cenobamate for the treatment of focal epilepsy: an Italian expert opinion paper. Expert review of neurotherapeutics (2023)
Simona Balestrini, Davide Mei, Sanjay M Sisodiya, Renzo Guerrini
Steps to Improve Precision Medicine in Epilepsy. Molecular diagnosis & therapy (2023)
Flavio Villani, Vittoria Cianci, Carlo Di Bonaventura, Giancarlo Di Gennaro, Carlo Andrea Galimberti, Renzo Guerrini, Angela La Neve, Oriano Mecarelli, Nicola Pietrafusa, Nicola Specchio, Federico Vigevano, Emilio Perucca
Use of cenobamate for the treatment of focal epilepsy: an Italian expert opinion paper. Expert review of neurotherapeutics (2023)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, Tiziana Pisano, Laloe Monteiro, Noémie Penaud, Christian M Korff, Joël Fluss, Carla Marini, Elisabetta Cesaroni, Blanca Mercedes Alvarez, Damien Sanlaville, Nicolas Chatron, Alexis A Arzimanoglou, Audrey Labalme, Vishnu Anand Cuddapah, Sarah M Ruggiero, Francois Lecoquierre, Gaël Nicolas, Guerrot Anne Marie, Axel Lebas, Herve O Testard, Katherine L Helbig, Anna Ruiz, Adeline Ngoh, Manju A Kurian, Kimberley Reid, Robert V V Spaull, Pascal Joset, Georgia Ramantani, Katharina Steindl, Martin Krenn, Lucia Gerstl, Silvia Vieker, Dana Craiu, Manuela Pendziwiat, Chad Haldeman-Englert, Ilya V Kanivets, Irina Romanova, Deepa S Rajan, Jill Anne Rosenfeld, Margaret Au, Katheryn Lynn Grand, John M Graham, Arnaud Isapof, Nathalie Villeneuve, Thomas Smol, Roseline Caumes, Pia Zacher, Sonja Neuser, Sigrid Tinschert, Konrad Platzer, Bartolomaeus Tobias, Ines Mohnke, Maximilian Radtke, Rami Abou Jamra, Ingo Helbig, Floortje E Jansen, Klaas Koop, Gabrielle Rudolf, Sébastien Küry, Julien Courchet, Renzo Guerrini, Gaëtan Lesca
Molecular and Phenotypic Characterization of the RORB -Related Disorder. Neurology 102 (2) (2023)
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini
Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1. American journal of medical genetics. Part C, Seminars in medical genetics (2023)
Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, Tiziana Pisano, Laloe Monteiro, Noémie Penaud, Christian M Korff, Joël Fluss, Carla Marini, Elisabetta Cesaroni, Blanca Mercedes Alvarez, Damien Sanlaville, Nicolas Chatron, Alexis A Arzimanoglou, Audrey Labalme, Vishnu Anand Cuddapah, Sarah M Ruggiero, Francois Lecoquierre, Gaël Nicolas, Guerrot Anne Marie, Axel Lebas, Herve O Testard, Katherine L Helbig, Anna Ruiz, Adeline Ngoh, Manju A Kurian, Kimberley Reid, Robert V V Spaull, Pascal Joset, Georgia Ramantani, Katharina Steindl, Martin Krenn, Lucia Gerstl, Silvia Vieker, Dana Craiu, Manuela Pendziwiat, Chad Haldeman-Englert, Ilya V Kanivets, Irina Romanova, Deepa S Rajan, Jill Anne Rosenfeld, Margaret Au, Katheryn Lynn Grand, John M Graham, Arnaud Isapof, Nathalie Villeneuve, Thomas Smol, Roseline Caumes, Pia Zacher, Sonja Neuser, Sigrid Tinschert, Konrad Platzer, Bartolomaeus Tobias, Ines Mohnke, Maximilian Radtke, Rami Abou Jamra, Ingo Helbig, Floortje E Jansen, Klaas Koop, Gabrielle Rudolf, Sébastien Küry, Julien Courchet, Renzo Guerrini, Gaëtan Lesca
Molecular and Phenotypic Characterization of the RORB -Related Disorder. Neurology 102 (2) (2023)
Norman Panza, Claudia Bianchini, Valentina Cetica, Simona Balestrini, Carmen Barba, Anna Rita Ferrari, Davide Mei, Lucio Parmeggiani, Elena Parrini, Renzo Guerrini
Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants. Epilepsia open (2023)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, Tiziana Pisano, Laloe Monteiro, Noémie Penaud, Christian M Korff, Joël Fluss, Carla Marini, Elisabetta Cesaroni, Blanca Mercedes Alvarez, Damien Sanlaville, Nicolas Chatron, Alexis A Arzimanoglou, Audrey Labalme, Vishnu Anand Cuddapah, Sarah M Ruggiero, Francois Lecoquierre, Gaël Nicolas, Guerrot Anne Marie, Axel Lebas, Herve O Testard, Katherine L Helbig, Anna Ruiz, Adeline Ngoh, Manju A Kurian, Kimberley Reid, Robert V V Spaull, Pascal Joset, Georgia Ramantani, Katharina Steindl, Martin Krenn, Lucia Gerstl, Silvia Vieker, Dana Craiu, Manuela Pendziwiat, Chad Haldeman-Englert, Ilya V Kanivets, Irina Romanova, Deepa S Rajan, Jill Anne Rosenfeld, Margaret Au, Katheryn Lynn Grand, John M Graham, Arnaud Isapof, Nathalie Villeneuve, Thomas Smol, Roseline Caumes, Pia Zacher, Sonja Neuser, Sigrid Tinschert, Konrad Platzer, Bartolomaeus Tobias, Ines Mohnke, Maximilian Radtke, Rami Abou Jamra, Ingo Helbig, Floortje E Jansen, Klaas Koop, Gabrielle Rudolf, Sébastien Küry, Julien Courchet, Renzo Guerrini, Gaëtan Lesca
Molecular and Phenotypic Characterization of the RORB -Related Disorder. Neurology 102 (2) (2023)
Evelina Carapancea, Marie-Coralie Cornet, Mathieu Milh, Lucrezia De Cosmo, Eric J Huang, Tiziana Granata, Pasquale Striano, Berten Ceulemans, Anja Stein, Deborah J Morris-Rosendahl, Greta Conti, Nipa Mitra, F Lucy Raymond, David H Rowitch, Roberta Solazzi, Fabiana Vercellino, Paola De Liso, Gianluca D'Onofrio, Clementina Boniver, Olivier Danhaive, Katherine Carkeek, Vincenzo Salpietro, Sarah Weckhuysen, Marny Fedrigo, Annalisa Angelini, Barbara Castellotti, Damien Lederer, Valérie Benoit, Federico Raviglione, Renzo Guerrini, Robertino Dilena, Maria Roberta Cilio
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy. Neurology 100 (12) (2023)
Simona Balestrini, Viola Doccini, Sabrina Giometto, Ersilia Lucenteforte, Salvatore De Masi, Elisa Giarola, Isabella Brambilla, Federica Pieroni, Marco Perulli, Domenica Battaglia, Nicola Specchio, Francesca Ragona, Tiziana Granata, Simona Pellacani, Annarita Ferrari, Carla Marini, Sara Matricardi, Elisabetta Cesaroni, Lucio Giordano, Patrizia Accorsi, Vittorio Sciruicchio, Paolo Tinuper, Tullio Messana, Angelo Russo, Dario Pruna, Margherita Nosadini, Valentina De Giorgis, Davide Caputo, Serena Pellegrin, Tommaso Lo Barco, Francesca Darra, Bernardo Dalla Bernardina, Renzo Guerrini, null null
A registry for Dravet syndrome: the Italian experience. Epilepsia open (2023)
Evelina Carapancea, Marie-Coralie Cornet, Mathieu Milh, Lucrezia De Cosmo, Eric J Huang, Tiziana Granata, Pasquale Striano, Berten Ceulemans, Anja Stein, Deborah J Morris-Rosendahl, Greta Conti, Nipa Mitra, F Lucy Raymond, David H Rowitch, Roberta Solazzi, Fabiana Vercellino, Paola De Liso, Gianluca D'Onofrio, Clementina Boniver, Olivier Danhaive, Katherine Carkeek, Vincenzo Salpietro, Sarah Weckhuysen, Marny Fedrigo, Annalisa Angelini, Barbara Castellotti, Damien Lederer, Valérie Benoit, Federico Raviglione, Renzo Guerrini, Robertino Dilena, Maria Roberta Cilio
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy. Neurology 100 (12) (2023)
Kelly G Knupp, Ingrid Eileen Scheffer, Berten Ceulemans, Joseph Sullivan, Katherine C Nickels, Lieven Lagae, Renzo Guerrini, Sameer M Zuberi, Rima Nabbout, Kate Riney, Anupam Agarwal, Michael Lock, David Dai, Gail M Farfel, Bradley S Galer, Arnold R Gammaitoni, Shikha Polega, Ronald Davis, Antonio Gil-Nagel
Fenfluramine provides clinically meaningful reduction in frequency of drop seizures in patients with Lennox-Gastaut syndrome: Interim analysis of an open-label extension study. Epilepsia (2022)
Carmen Barba, Ingmar Blumcke, Melodie R Winawer, Till S Hartlieb, Hoon-Chul Kang, Laura Grisotto, Mathilde Chipaux, Christian G Bien, Barbora Heřmanovská, Brenda E Porter, Hart G W Lidov, Valentina Cetica, Friedrich G Woermann, Javier A Lopez-Rivera, Peter D Canoll, Irina Mader, Ludovico D'Incerti, Sara Baldassari, Edward Yang, Ahmed Gaballa, Hannes Vogel, Barbora Benova, Letizia Macconi, Tilman Polster, Gerald A Grant, Lenka Krsková, Hui Jin Shin, Ara Ko, Peter B Crino, Pavel Krsek, Jeong Ho Lee, Dennis Lal, Stephanie Baulac, Annapurna Poduri, Renzo Guerrini
Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene. Neurology (2022)
Imad M Najm, Dennis Lal, Mario Alonso-Vanegas, Fernando Cendes, Iscia Lopes-Cendes, André Luis Fernandes Palmini, Eliseu Paglioli, Harvey B Sarnat, Christopher A Walsh, Samuel Wiebe, Eleonora M A Aronica, Stephanie Baulac, Roland Coras, Katja Kobow, Judith Helen Cross, Rita Garbelli, Hans Holthausen, Karl Rössler, Maria Thom, Assam El-Osta, Jeong Ho Lee, Hajime Miyata, Renzo Guerrini, Yue-Shan Piao, Dong Zhou, Ingmar Bluemcke
The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission. Epilepsia 63 (8) (2022)
Simona Balestrini, Viola Doccini, Alessandra Boncristiano, Matteo Lenge, Salvatore De Masi, Renzo Guerrini
Efficacy and Safety of Long-Term Treatment with Stiripentol in Children and Adults with Drug-Resistant Epilepsies: A Retrospective Cohort Study of 196 Patients. Drugs - real world outcomes 9 (3) (2022)
Nataliya Di Donato, Renzo Guerrini, Charles J Billington, A James Barkovich, Philine Dinkel, Elena Freri, Michael Heide, Elliot S Gershon, Tracy S Gertler, Robert J Hopkin, Suma Jacob, Sarah K Keedy, Daniz Kooshavar, Paul J Lockhart, Dietmar R Lohmann, Iman Gamal El Din Mahmoud, Elena Parrini, Evelin Schrock, Giulia Severi, Andrew E Timms, Richard I Webster, Mary J H Willis, Maha S Zaki, Joseph G Gleeson, Richard J Leventer, William B Dobyns
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders. Brain : a journal of neurology 145 (9) (2022)
Adam C O'Neill, Fatma Uzbas, Giulia Antognolli, Florencia L Merino, Kalina Draganova, Alex Jäck, Sirui Zhang, Giorgia Pedini, Julia Patricia Schessner, Kimberly Cramer, Aloys Schepers, Fabian Metzger, Miriam Esgleas, Pawel Smialowski, Renzo Guerrini, Sven Falk, Regina Feederle, Saskia Freytag, Zefeng Wang, Melanie Bahlo, Ralf Jungmann, Claudia Bagni, Georg H H Borner, Stephen P Robertson, Stefanie M Hauck, Magdalena Götz
Spatial centrosome proteome of human neural cells uncovers disease-relevant heterogeneity. Science (New York, N.Y.) 376 (6599) (2022)
Niklas Schwarz, Simone Seiffert, Manuela Pendziwiat, Annika Verena Rademacher, Tobias Brünger, Ulrike B S Hedrich, Paul B Augustijn, Hartmut Baier, Carolina Alvarez, Francesca Bisulli, Russell J Buono, Ben Zeev Bruria, Michael G Doyle, Renzo Guerrini, Gali Heimer, Michele Iacomino, Hugh Kearney, Karl Martin Klein, Ioanna Kousiappa, Wolfram S Kunz, Holger Lerche, Laura Licchetta, Ebba Lohmann, Raffaella Minardi, Marie McDonald, Sarah Montgomery, Lejla Mulahasanovic, Renske Oegema, Barel Ortal, Savvas S Papacostas, Francesca Ragona, Tiziana Granata, Phillip S Reif, Felix Rosenow, Annick Rothschild, Paolo Scudieri, Pasquale Striano, Paolo Tinuper, George A Tanteles, Annalisa Vetro, Felix Zahnert, Ethan M Goldberg, Federico Zara, Dennis Lal, Patrick May, Hiltrud Muhle, Ingo Helbig, Yvonne Weber
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants. Neurology 98 (20) (2022)
Seymour M Lopez, Leon M Aksman, Neil P Oxtoby, Sjoerd B Vos, Jun Rao, Erik Kaestner, Saud Alhusaini, Marina K M Alvim, Benjamin Bender, Andrea Bernasconi, Neda Bernasconi, Boris C Bernhardt, Leonardo Bonilha, Lorenzo Caciagli, Benoit Caldairou, Maria Eugenia Caligiuri, Angels Calvet, Fernando Cendes, Luis Concha, Estefania Conde-Blanco, Esmaeil Davoodi-Bojd, Christophe E de Bézenac, Norman Delanty, Patricia M Desmond, Orrin Devinsky, Martin Domin, John S Duncan, Niels K Focke, Sonya Foley, Francesco Fortunato, Marian Galovic, Antonio Gambardella, Ezequiel L Gleichgerrcht, Renzo Guerrini, Khalid Hamandi, Victoria Ives-Deliperi, Graeme D Jackson, Neda Jahanshad, Simon S Keller, Peter Kochunov, Raviteja Kotikalapudi, Barbara A K Kreilkamp, Angelo Labate, Sara Lariviere, Matteo Lenge, Elaine Lui, Charles B Malpas, Pascal Martin, Mario Mascalchi, Sarah E Medland, Stefano Meletti, Márcia E Morita, Thomas W Owen, Mark Richardson, Antonella Riva, Theodor Ruber, Benjamin Sinclair, Hamid Soltanian-Zadeh, Dan J Stein, Pasquale Striano, Peter Neal Taylor, Sophia I Thomopoulos, Paul M Thompson, Manuela Tondelli, Anna Elisabetta Vaudano, Lucy E Vivash, Yujiang Wang, Bernd Weber, Christopher D Whelan, Roland Wiest, Gavin P Winston, Clarissa Lin Yasuda, Carrie R McDonald, Daniel C Alexander, Sanjay M Sisodiya, André Altmann, null null
Event-based modeling in temporal lobe epilepsy demonstrates progressive atrophy from cross-sectional data. Epilepsia 63 (8) (2022)
Hannah Spitzer, Mathilde Ripart, Kirstie Whitaker, Felice D'Arco, Kshitij Mankad, Andrew A Chen, Antonio Napolitano, Luca De Palma, Alessandro De Benedictis, Stephen Foldes, Zachary Humphreys, Kai Zhang, Wenhan Hu, Jiajie Mo, Marcus Likeman, Shirin Davies, Christopher Güttler, Matteo Lenge, Nathan T Cohen, Yingying Tang, Shan Wang, Aswin Chari, Martin M Tisdall, Nuria Bargallo, Estefanía Conde-Blanco, Jose Carlos Pariente, Saül Pascual-Diaz, Ignacio Delgado-Martínez, Carmen Pérez-Enríquez, Ilaria Lagorio, Eugenio Abela, Nandini Mullatti, Jonathan O'Muircheartaigh, Katy Vecchiato, Yawu Liu, Maria Eugenia Caligiuri, Ben Sinclair, Lucy Vivash, Anna Willard, Jothy Kandasamy, Ailsa McLellan, Drahoslav Sokol, Mira Semmelroch, Ane G Kloster, Giske Opheim, Letícia Ribeiro, Clarissa Yasuda, Camilla Rossi-Espagnet, Khalid Hamandi, Anna Tietze, Carmen Barba, Renzo Guerrini, William Davis Gaillard, Xiaozhen You, Irene Wang, Sofía González-Ortiz, Mariasavina Severino, Pasquale Striano, Domenico Tortora, Reetta Kälviäinen, Antonio Gambardella, Angelo Labate, Patricia Desmond, Elaine Lui, Terence O'Brien, Jay Shetty, Graeme Jackson, John Sidney Duncan, Gavin P Winston, Lars H Pinborg, Fernando Cendes, Fabian J Theis, Russell T Shinohara, J Helen Cross, Torsten Baldeweg, Sophie Adler, Konrad Wagstyl
Interpretable surface-based detection of focal cortical dysplasias: a Multi-centre Epilepsy Lesion Detection study. Brain : a journal of neurology 145 (11) (2022)
Hannah Stamberger, David Crosiers, Ganna Balagura, Claudia Maria Bonardi, Anna Basu, Gaetano Cantalupo, Valentina Chiesa, Jakob Christensen, Bernardo Dalla Bernardina, Colin A Ellis, Francesca Furia, Fiona Gardiner, Camille Giron, Renzo Guerrini, Karl Martin Klein, Christian Korff, Hana Krijtova, Melanie Leffler, Holger Lerche, Gaetan Lesca, David Lewis-Smith, Carla Marini, Dragan Marjanovic, Laure Mazzola, Sarah McKeown Ruggiero, Fanny Mochel, Francis Ramond, Philipp S Reif, Aurélie Richard-Mornas, Felix Rosenow, Christian Schropp, Rhys Huw Thomas, Aglaia Vignoli, Yvonne Weber, Emma Elizabeth Palmer, Ingo Helbig, Ingrid Eileen Scheffer, Pasquale Striano, Rikke Steensjerre Moller, Elena Gardella, Sarah Weckhuysen
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood. Neurology 99 (3) (2022)
Laura Di Patria, Giosuè Annibalini, Amelia Morrone, Lorenzo Ferri, Roberta Saltarelli, Luca Galluzzi, Aurora Diotallevi, Matteo Bocconcelli, Maria Alice Donati, Rita Barone, Renzo Guerrini, Jaak Jaeken, Vilberto Stocchi, Elena Barbieri
Defective IGF-1 prohormone N-glycosylation and reduced IGF-1 receptor signaling activation in congenital disorders of glycosylation. Cellular and molecular life sciences : CMLS 79 (3) (2022)
Fabrizio Chiti, Federica Feo, Anna Caciotti, Rodolfo Tonin, Matteo Lulli, Domenico A Coviello, Renzo Guerrini, Martino Calamai, Amelia Morrone
Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type C. Biomedicines 10 (8) (2022)
Renzo Guerrini, Nicola Specchio, Angel Aledo-Serrano, Milka Pringsheim, Francesca Darra, Thomas Mayer, Antonio Gil-Nagel, Tilman Polster, Sameer M Zuberi, Amélie Lothe, Arnold R Gammaitoni, Adam Strzelczyk
An examination of the efficacy and safety of fenfluramine in adults, children, and adolescents with Dravet syndrome in a real-world practice setting: A report from the Fenfluramine European Early Access Program. Epilepsia open 7 (4) (2022)
Silvia Zago, Evelina Silvestri, Tiziana Arcangeli, Marina Calisesi, Chiara Romeo, Giulia Parmeggiani, Elena Parrini, Valentina Cetica, Renzo Guerrini, Andrea Palicelli, Maria Paola Bonasoni
Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations. Fetal and pediatric pathology (2022)
Renzo Guerrini, Valerio Conti, Massimo Mantegazza, Simona Balestrini, Aristea S Galanopoulou, Fabio Benfenati
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum. Physiological reviews 103 (1) (2022)
Renzo Guerrini, Davide Mei, Katalin Kerti-Szigeti, Sara Pepe, Mary Kay Koenig, Gretchen Von Allmen, Megan T Cho, Kimberly McDonald, Janice Baker, Vikas Bhambhani, Zöe Powis, Lance Rodan, Rima Nabbout, Giulia Barcia, Jill Anne Rosenfeld, Carlos A Bacino, Cyril Mignot, Lillian H Power, Catharine J Harris, Dragan Marjanovic, Rikke S Møller, Trine B Hammer, null null, Riikka Keski Filppula, Päivi Vieira, Clara Hildebrandt, Stephanie Sacharow, null null, Luca Maragliano, Fabio Benfenati, Katherine Lachlan, Andreas Benneche, Florence Petit, Jean Madeleine de Sainte Agathe, Barbara Hallinan, Yue Si, Ingrid M Wentzensen, Fanggeng Zou, Vinodh Narayanan, Naomichi Matsumoto, Alessandra Boncristiano, Giancarlo la Marca, Mitsuhiro Kato, Kristin Anderson, Carmen Barba, Luisa Sturiale, Domenico Garozzo, Roberto Bei, null null, Laura Masuelli, Valerio Conti, Gaia Novarino, Anna Fassio
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis. Brain : a journal of neurology 145 (8) (2022)
Bo-Yong Park, Sara Lariviere, Raul Rodríguez-Cruces, Jessica Royer, Shahin Tavakol, Yezhou Wang, Lorenzo Caciagli, Maria Eugenia Caligiuri, Antonio Gambardella, Luis Concha, Simon S Keller, Fernando Cendes, Marina K M Alvim, Clarissa Yasuda, Leonardo Bonilha, Ezequiel L Gleichgerrcht, Niels K Focke, Barbara A K Kreilkamp, Martin Domin, Felix von Podewils, Soenke Langner, Christian Rummel, Michael Rebsamen, Roland Wiest, Pascal Martin, Raviteja Kotikalapudi, Benjamin Bender, Terence J O'Brien, Meng Law, Benjamin Sinclair, Lucy Vivash, Patrick Kwan, Patricia M Desmond, Charles B Malpas, Elaine Lui, Saud Alhusaini, Colin P Doherty, Gianpiero L Cavalleri, Norman Delanty, Reetta Kälviäinen, Graeme D Jackson, Magdalena Kowalczyk, Mario Mascalchi, Mira Semmelroch, Rhys H Thomas, Hamid Soltanian-Zadeh, Esmaeil Davoodi-Bojd, Junsong Zhang, Matteo Lenge, Renzo Guerrini, Emanuele Bartolini, Khalid Hamandi, Sonya Foley, Bernd Weber, Chantal Depondt, Julie Absil, Sarah J A Carr, Eugenio Abela, Mark P Richardson, Orrin Devinsky, Mariasavina Severino, Pasquale Striano, Costanza Parodi, Domenico Tortora, Sean N Hatton, Sjoerd B Vos, John Sidney Duncan, Marian Galovic, Christopher D Whelan, Núria Bargalló, Jose Pariente, Estefania Conde-Blanco, Anna Elisabetta Vaudano, Manuela Tondelli, Stefano Meletti, Xiang-Zhen Kong, Clyde Francks, Simon E Fisher, Benoit Caldairou, Mina Ryten, Angelo Labate, Sanjay M Sisodiya, Paul M Thompson, Carrie R McDonald, Andrea Bernasconi, Neda Bernasconi, Boris C Bernhardt
Topographic divergence of atypical cortical asymmetry and atrophy patterns in temporal lobe epilepsy. Brain : a journal of neurology 145 (4) (2022)
Simona Balestrini, Renzo Guerrini, Sanjay M Sisodiya
Rare and Complex Epilepsies from Childhood to Adulthood: Requirements for Separate Management or Scope for a Lifespan Holistic Approach? Current neurology and neuroscience reports 21 (12) (2021)
Konrad Wagstyl, Kirstie Whitaker, Armin Raznahan, Jakob Seidlitz, Petra E Vértes, Stephen Foldes, Zachary Humphreys, Wenhan Hu, Jiajie Mo, Marcus Likeman, Shirin Davies, Matteo Lenge, Nathan T Cohen, Yingying Tang, Shan Wang, Mathilde Ripart, Aswin Chari, Martin Tisdall, Nuria Bargallo, Estefania Conde-Blanco, Jose Carlos Pariente, Saül Pascual-Diaz, Ignacio Delgado-Martínez, Carmen Pérez-Enríquez, Ilaria Lagorio, Eugenio Abela, Nandini Mullatti, Jonathan O'Muircheartaigh, Katy Vecchiato, Yawu Liu, Maria Caligiuri, Ben Sinclair, Lucy Vivash, Anna Willard, Jothy Kandasamy, Ailsa McLellan, Drahoslav Sokol, Mira Semmelroch, Ane Kloster, Giske Opheim, Clarissa Yasuda, Kai Zhang, Khalid Hamandi, Carmen Barba, Renzo Guerrini, William Davis Gaillard, Xiaozhen You, Zhong Irene Wang, Sofía González-Ortiz, Mariasavina Severino, Pasquale Striano, Domenico Tortora, Reetta Kalviainen, Antonio Gambardella, Angelo Labate, Patricia Desmond, Elaine Lui, Terry O'Brien, Jay Shetty, Graeme Jackson, John S Duncan, Gavin P Winston, Lars Pinborg, Fernando Cendes, Judith Helen Cross, Torsten Baldeweg, Sophie Adler
Atlas of lesion locations and postsurgical seizure freedom in focal cortical dysplasia: A MELD study. Epilepsia (2021)
Kenneth A Myers, Carla Marini, Gemma Louise Carvill, Amy McTague, Julie Panetta, Chloe Alice Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H Scott, Heather C Mefford, Renzo Guerrini, Ingrid Eileen Scheffer
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder. Neurology. Genetics 7 (2) (2021)
Renzo Guerrini, Carmen Barba
Focal cortical dysplasia: an update on diagnosis and treatment. Expert review of neurotherapeutics 21 (11) (2021)
Ravnoor Singh Gill, Hyo-Min Lee, Benoit Caldairou, Seok-Jun Hong, Carmen Barba, Francesca Anzellotti, Ludovico D'Incerti, Vanessa Cristina Mendes Coelho, Matteo Lenge, Mira Semmelroch, Dewi Victoria Schrader, Fabrice Bartolomei, Maxime Guye, Andreas Schulze-Bonhage, Horst Urbach, Kyoo Ho Cho, Fernando Cendes, Renzo Guerrini, Graeme Jackson, Robert Edward Hogan, Neda Bernasconi, Andrea Bernasconi
Multicenter Validation of a Deep Learning Detection Algorithm for Focal Cortical Dysplasia. Neurology 97 (16) (2021)
Beatrice De Maria, Simona Balestrini, Davide Mei, Federico Melani, Simona Pellacani, Tiziana Pisano, Anna Rosati, Giusi M Scaturro, Lucio Giordano, Gaetano Cantalupo, Elena Fontana, Cristina Zammarchi, Edith Said, Vincenzo Leuzzi, Mario Mastrangelo, Serena Galosi, Elena Parrini, Renzo Guerrini
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy. American journal of medical genetics. Part A (2021)
Francesco Miceli, Renzo Guerrini, Mario Nappi, Maria Virginia Soldovieri, Elena Cellini, Christina A Gurnett, Lucio Parmeggiani, Davide Mei, Taglialatela Maurizio
Distinct epilepsy phenotypes and response to drugs in KCNA1 gain- and loss-of function variants. Epilepsia (2021)
Tobias Baumgartner, Mar Carreño, Rodrigo Rocamora, Francesca Bisulli, Antonella Boni, Milan Brázdil, Ondrej Horak, Dana Craiu, Cristina Pereira, Renzo Guerrini, Victoria San Antonio-Arce, Andreas Schulze-Bonhage, Sameer M Zuberi, Tove Hallböök, Reetta Kalviainen, Lieven Lagae, Sylvie Nguyen, Sofia Quintas, Ana Catarina Franco, Judith Helen Cross, Matthew Walker, Alexis A Arzimanoglou, Sylvain Rheims, Tiziana Granata, Canafoglia Laura, Cecilie Johannessen Landmark, Arjune Sen, Rohini Rattihalli, Rima Nabbout, Elena Tartara, Manuela Santos, Rui Rangel, Pavel Krsek, Petr Marusic, Nicola Specchio, Kees P J Braun, Patricia Smeyers, Vicente Villanueva, Katarzyna Kotulska, Rainer Surges, Paolo Tinuper, Laura Licchetta, Roberto Michelucci, Joseph Toulouse, Eleni Panagiotakaki, Karine Ostrowsky-Coste, Gaetan Lesca, Marco de Curtis, Martin Elisak, Dorota Domańska-Pakiea, Krzysztof Sadowski
A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies. Epilepsia open 6 (1) (2021)
Deborah Tolomeo, Daniele Orsucci, Claudia Nesti, Jacopo Baldacci, Roberta Battini, Claudio Bruno, Giorgia Bruno, Denise Cassandrini, Stefano Doccini, M Alice Donati, Annarita Ferrari, Simona Fiori, Chiara Fiorillo, Renzo Guerrini, Francesco Mari, Martino Montomoli, Francesca Pochiero, Elena Procopio, Lucia Ruggiero, Silvio Peluso, Federico Sicca, Chiara Ticci, Anna Rubegni, Filippo Maria Santorelli
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study. Journal of clinical medicine 10 (15) (2021)
Annalisa Vetro, Hang N Nielsen, Rikke Holm, Robert F Hevner, Elena Parrini, Zoe Powis, Rikke S Møller, Cristina Bellan, Alessandro Simonati, Gaétan Lesca, Katherine L Helbig, Elizabeth E Palmer, Davide Mei, Elisa Ballardini, Arie Van Haeringen, Steffen Syrbe, Vincenzo Leuzzi, Giovanni Cioni, Cynthia J Curry, Gregory Costain, Margherita Santucci, Karen Chong, Grazia Maria Simonetta Mancini, Jill Clayton-Smith, Stefania Bigoni, Ingrid E Scheffer, William B Dobyns, Bente Vilsen, Renzo Guerrini, null null
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. Brain : a journal of neurology 144 (5) (2021)
Judith Helen Cross, Roberto H Caraballo, Rima Nabbout, Federico Vigevano, Renzo Guerrini, Lieven Lagae
Dravet syndrome: Treatment options and management of prolonged seizures. Epilepsia (2020)
Shan Tang, Laura Addis, Anna Smith, Simon D Topp, Manuela Pendziwiat, Davide Mei, Alasdair Parker, Shakti Agrawal, Elaine Hughes, Karine Lascelles, Ruth E Williams, Penny Fallon, Robert Robinson, Helen J Cross, Tammy Hedderly, Christin Eltze, Tim Kerr, Archana Desurkar, Nahin Hussain, Maria Kinali, Irene Bagnasco, Grace Vassallo, William Whitehouse, Sushma Goyal, Michael Absoud, null null, Rikke Steensjerre Moller, Ingo Helbig, Yvonne G Weber, Carla Marini, Renzo Guerrini, Michael A Simpson, Deb K Pal
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures. Epilepsia 61 (5) (2020)
Carolina Alvarez, Alexej Knaus, Manuela Pendziwiat, Alexandra Afenjar, Tahsin Stefan Barakat, Friedrich Bosch, Bert Callewaert, Patrick Calvas, Berten Ceulemans, Nicolas Chassaing, Christel Depienne, Milda Endziniene, Carlos R Ferreira, Carolina Fischinger Moura de Souza, Cécile Freihuber, Shiva Ganesan, Svetlana Gataullina, Renzo Guerrini, Anne-Marie Guerrot, Lars Hansen, Aleksandra Jezela-Stanek, Caroline Karsenty, Anneke Kievit, R Frank Kooy, Christian M Korff, Johanne Kragh Hansen, Martin Larsen, Valérie Layet, Gaëtan Lesca, Kim L McBride, Marije Meuwissen, Cyril Mignot, Martino Montomoli, Hannah Moore, Sophie Naudion, Caroline Nava, Marie-Christine Nougues, Elena Parrini, Matthew Pastore, Jurgen H Schelhaas, Steven Skinner, Krzysztoł Szczałuba, Ashley Thomas, Mads Thomassen, Lisbeth Tranebjaerg, Marjon van Slegtenhorst, Lynne A Wolfe, Dennis Lal, Elena Gardella, Lilian Bomme Ousager, Tobias Brünger, Ingo Helbig, Peter Krawitz, Rikke Steensjerre Moller
Lessons learned from 40 novel PIGA patients and a review of the literature. Epilepsia 61 (6) (2020)
Annalisa Vetro, Tiziana Pisano, Silvia Chiaro, Elena Procopio, Azzurra Guerra, Elena Parrini, Davide Mei, Simona Virdò, Giusi Mangone, Chiara Azzari, Renzo Guerrini
Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations. Neurology. Genetics 6 (1) (2020)
Renzo Guerrini, F Giordano, Mirco Cosottini
Reply. AJNR. American journal of neuroradiology 41 (3) (2020)
Renske Oegema, Tahsin Stefan Barakat, Martina Wilke, Katrien Stouffs, Dina Amrom, Eleonora Aronica, Nadia Bahi-Buisson, Valerio Conti, Andrew E Fry, Tobias Geis, David Gomez Andres, Elena Parrini, Ivana Pogledic, Edith Said, Doriette Soler, Luis M Valor, Maha Saad Zaki, Ghayda M Mirzaa, William B Dobyns, Orly Reiner, Renzo Guerrini, Daniela T Pilz, Ute Hehr, Richard J Leventer, Anna C Jansen, Grazia M S Mancini, Nataliya Di Donato
International consensus recommendations on the diagnostic work-up for malformations of cortical development. Nature reviews. Neurology 16 (11) (2020)
Carmen Barba, Massimo Cossu, Renzo Guerrini, Giancarlo Di Gennaro, Flavio Villani, Luca De Palma, Laura Grisotto, Alessandro Consales, Domenica Immacolata Battaglia, Nelia Zamponi, Piergiorgio d'Orio, Martina Revay, Michele Rizzi, Sara Casciato, Vincenzo Esposito, Pier Paolo Quarato, Roberta di Giacomo, Giuseppe Didato, Chiara Pastori, Giusy Carfi Pavia, Simona Pellacani, Giulia Matta, Mattia Pacetti, Gianpiero Tamburrini, Elisabetta Cesaroni, Gabriella Colicchio, Giampaolo Vatti, Sofia Asioli, Massimo Caulo, null null, Carlo Efisio Marras, Laura Tassi
Temporal lobe epilepsy surgery in children and adults: A multicenter study. Epilepsia 62 (1) (2020)
Renzo Guerrini, Mara Cavallin, Tommaso Pippucci, Anna Rosati, Francesca Bisulli, Paola Dimartino, Carmen Barba, Rita Garbelli, Anna Maria Buccoliero, Laura Tassi, Valerio Conti
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder? Neurology. Genetics 7 (1) (2020)
Nicola Specchio, Nicola Pietrafusa, Viola Doccini, Marina Trivisano, Francesca Darra, Francesca Ragona, Alberto Cossu, Silvia Spolverato, Domenica Battaglia, Michela Quintiliani, Maria Luigia Gambardella, Anna Rosati, Davide Mei, Tiziana Granata, Bernardo Dalla Bernardina, Federico Vigevano, Renzo Guerrini
Efficacy and safety of Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A real-world study. Epilepsia 61 (11) (2020)
Carmen Barba, Judith Helen Cross, Kees Braun, Massimo Cossu, Kerstin Alexandra Klotz, Salvatore De Masi, Maria Angeles Perez Jiménez, Eija Gaily, Nicola Specchio, Pedro Cabral, Joseph Toulouse, Petia Dimova, Domenica Battaglia, Elena Freri, Alessandro Consales, Elisabetta Cesaroni, Oana Tarta-Arsene, Antonio Gil-Nagel, Ioana Mindruta, Giancarlo Di Gennaro, Marco Giulioni, Martin M Tisdall, Christin Eltze, Muhammad Zubair Tahir, Floor Jansen, Peter van Rijen, Maurits W C B Sanders, Laura Tassi, Stefano Francione, Giorgio Lo Russo, Julia Jacobs, Thomas Bast, Giulia Matta, Marcelo Budke, Concepción Fournier Del Castillo, Eeva-Liisa Metsahonkala, Atte Karppinen, José Carlos Ferreira, Krasimir Minkin, Carlo Efisio Marras, null null, Alexis Arzimanoglou, Renzo Guerrini
Trends in pediatric epilepsy surgery in Europe between 2008 and 2015: Country-, center-, and age-specific variation. Epilepsia 61 (2) (2019)
Anna Rosati, Alessandra Boncristiano, Viola Doccini, Alessandra Pugi, Tiziana Pisano, Matteo Lenge, Salvatore De Masi, Renzo Guerrini
Long-term efficacy of add-on stiripentol treatment in children, adolescents, and young adults with refractory epilepsies: A single center prospective observational study. Epilepsia 60 (11) (2019)
Asla Pitkänen, David C Henshall, Judith Helen Cross, Renzo Guerrini, Sergiusz Jozwiak, Merab Kokaia, Michele Simonato, Sanjay M Sisodiya, Janet Mifsud
Advancing research toward faster diagnosis, better treatment, and end of stigma in epilepsy. Epilepsia 60 (7) (2019)
Elena Cellini, Annalisa Vetro, Valerio Conti, Carla Marini, Viola Doccini, Claudia Clementella, Elena Parrini, Sabrina Rita Giglio, Matteo Della Monica, Marco Fichera, Sebastiano Antonino Musumeci, Renzo Guerrini
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity. European journal of human genetics : EJHG 27 (6) (2019)
Mark A Corbett, Thessa Kroes, Liana Veneziano, Mark F Bennett, Rahel Florian, Amy L Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa, Aaron Wenger, Davide Mei, Manuela Pendziwiat, Sabine Kaya, Massimo Delledonne, Rachel Straussberg, Luciano Xumerle, Brigid Regan, Douglas Crompton, Anne-Fleur van Rootselaar, Anthony Correll, Rachael Catford, Francesca Bisulli, Shreyasee Chakraborty, Sara Baldassari, Paolo Tinuper, Kirston Barton, Shaun Carswell, Martin Smith, Alfredo Berardelli, Renee Carroll, Alison Gardner, Kathryn L Friend, Ilan Blatt, Michele Iacomino, Carlo Di Bonaventura, Salvatore Striano, Julien Buratti, Boris Keren, Caroline Nava, Sylvie Forlani, Gabrielle Rudolf, Edouard Hirsch, Eric Leguern, Pierre Labauge, Simona Balestrini, Josemir W Sander, Zaid Afawi, Ingo Helbig, Hiroyuki Ishiura, Shoji Tsuji, Sanjay M Sisodiya, Giorgio Casari, Lynette G Sadleir, Riaan van Coller, Marina A J Tijssen, Karl Martin Klein, Arn M J M van den Maagdenberg, Federico Zara, Renzo Guerrini, Samuel Frank Berkovic, Tommaso Pippucci, Canafoglia Laura, Melanie Bahlo, Pasquale Striano, Ingrid Eileen Scheffer, Francesco Brancati, Christel Depienne, Jozef Gecz
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2. Nature communications 10 (1) (2019)
Renzo Guerrini
Epilepsy of infancy with migrating focal seizures or rigidity and multifocal seizure syndrome, lethal neonatal? Different emphases on a severe phenotype. Developmental medicine and child neurology 62 (9) (2019)
Emanuele Bartolini, Mirco Cosottini, Mauro Costagli, Carmen Barba, Laura Tassi, Roberto Spreafico, Rita Garbelli, Laura Biagi, Anna Maria Buccoliero, F Giordano, Renzo Guerrini
Ultra-High-Field Targeted Imaging of Focal Cortical Dysplasia: The Intracortical Black Line Sign in Type IIb. AJNR. American journal of neuroradiology 40 (12) (2019)
Katrine Marie Johannesen, Diana Mitter, Robert Janowski, Christian Roth, Joseph Toulouse, Anne-Lise Poulat, Dorothee M Ville, Nicolas Chatron, Eva H Brilstra, Karin Geleijns, Alfred Peter Born, Scott McLean, Kimberly Nugent, Gareth S Baynam, Cathryn Poulton, Lauren Dreyer, Dylan Gration, Solveig Schulz, Andrea Dieckmann, Katherine L Helbig, Andreas Merkenschlager, Rami Abou Jamra, Anja Finck, Elena Gardella, Henrik Hjalgrim, Ghayda M Mirzaa, Francesco Brancati, Tatjana Bierhals, Jonas Denecke, Maja Hempel, Johannes R Lemke, Guido Rubboli, Petra Muschke, Renzo Guerrini, Annalisa Vetro, Dierk Niessing, Gaëtan Lesca, Rikke Steensjerre Moller
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy. Neurology. Genetics 5 (6) (2019)
Dalila De Vita, Davide Mei, Domenico Rutigliano, Niccolò Bartalucci, Claudia Maria Cinnante, Elena Parrini, Robertino Dilena, Renzo Guerrini
Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation. American journal of medical genetics. Part A 176 (12) (2018)