Mitsuhiro Kato

Scopus Author ID Researcher Name Resolver ID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 30

Top Topics

Cerebrospinal Fluid

Autism Spectrum Disorder

Top Venues

Journal of human genetics

Nature communications

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

Publications

Eriko Koshimizu, Mitsuhiro Kato, Kazuharu Misawa, Yuri Uchiyama, Naomi Tsuchida, Kohei Hamanaka, Atsushi Fujita, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling. Journal of human genetics (2024)
Gabrielle Conecker, Maya Y Xia, JayEtta Z Hecker, Christelle Achkar, Cristine Cukiert, Seth Devries, Elizabeth J Donner, Mark P Fitzgerald, Elena Gardella, Michael F Hammer, Anaita Hegde, Chunhui Hu, Mitsuhiro Kato, Tian Luo, John M Schreiber, Yi Wang, Tammy Kooistra, Madeleine J Oudin, Kayla Waldrop, J Tyler Youngquist, Dennis Zhang, Elaine C Wirrell, Michael Scott Perry
Global modified Delphi consensus on diagnosis, phenotypes, and treatment of SCN8A-related epilepsy and/or neurodevelopmental disorders. Epilepsia (2024)
Eriko Koshimizu, Mitsuhiro Kato, Kazuharu Misawa, Yuri Uchiyama, Naomi Tsuchida, Kohei Hamanaka, Atsushi Fujita, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling. Journal of human genetics 69 (3-4) (2024)
Gabrielle Conecker, Maya Y Xia, JayEtta Z Hecker, Christelle Achkar, Cristine Cukiert, Seth Devries, Elizabeth J Donner, Mark P Fitzgerald, Elena Gardella, Michael F Hammer, Anaita Hegde, Chunhui Hu, Mitsuhiro Kato, Tian Luo, John M Schreiber, Yi Wang, Tammy Kooistra, Madeleine J Oudin, Kayla Waldrop, J Tyler Youngquist, Dennis Zhang, Elaine C Wirrell, Michael Scott Perry
Global modified-Delphi consensus on comorbidities and prognosis of SCN8A-related epilepsy and/or neurodevelopmental disorders. Epilepsia 65 (8) (2024)
Eriko Koshimizu, Mitsuhiro Kato, Kazuharu Misawa, Yuri Uchiyama, Naomi Tsuchida, Kohei Hamanaka, Atsushi Fujita, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling. Journal of human genetics 69 (3-4) (2024)
Gabrielle Conecker, Maya Y Xia, JayEtta Z Hecker, Christelle Achkar, Cristine Cukiert, Seth Devries, Elizabeth J Donner, Mark P Fitzgerald, Elena Gardella, Michael F Hammer, Anaita Hegde, Chunhui Hu, Mitsuhiro Kato, Tian Luo, John M Schreiber, Yi Wang, Tammy Kooistra, Madeleine J Oudin, Kayla Waldrop, J Tyler Youngquist, Dennis Zhang, Elaine C Wirrell, Michael Scott Perry
Global modified Delphi consensus on diagnosis, phenotypes, and treatment of SCN8A-related epilepsy and/or neurodevelopmental disorders. Epilepsia 65 (8) (2024)
Gabrielle Conecker, Maya Y Xia, JayEtta Z Hecker, Christelle Achkar, Cristine Cukiert, Seth Devries, Elizabeth J Donner, Mark P Fitzgerald, Elena Gardella, Michael F Hammer, Anaita Hegde, Chunhui Hu, Mitsuhiro Kato, Tian Luo, John M Schreiber, Yi Wang, Tammy Kooistra, Madeleine J Oudin, Kayla Waldrop, J Tyler Youngquist, Dennis Zhang, Elaine C Wirrell, Michael Scott Perry
Global modified Delphi consensus on diagnosis, phenotypes, and treatment of SCN8A-related epilepsy and/or neurodevelopmental disorders. Epilepsia 65 (8) (2024)
Gabrielle Conecker, Maya Y Xia, JayEtta Z Hecker, Christelle Achkar, Cristine Cukiert, Seth Devries, Elizabeth J Donner, Mark P Fitzgerald, Elena Gardella, Michael F Hammer, Anaita Hegde, Chunhui Hu, Mitsuhiro Kato, Tian Luo, John M Schreiber, Yi Wang, Tammy Kooistra, Madeleine J Oudin, Kayla Waldrop, J Tyler Youngquist, Dennis Zhang, Elaine C Wirrell, Michael Scott Perry
Global modified-Delphi consensus on comorbidities and prognosis of SCN8A-related epilepsy and/or neurodevelopmental disorders. Epilepsia 65 (8) (2024)
Gabrielle Conecker, Maya Y Xia, JayEtta Z Hecker, Christelle Achkar, Cristine Cukiert, Seth Devries, Elizabeth J Donner, Mark P Fitzgerald, Elena Gardella, Michael F Hammer, Anaita Hegde, Chunhui Hu, Mitsuhiro Kato, Tian Luo, John M Schreiber, Yi Wang, Tammy Kooistra, Madeleine J Oudin, Kayla Waldrop, J Tyler Youngquist, Dennis Zhang, Elaine C Wirrell, Michael Scott Perry
Global modified-Delphi consensus on comorbidities and prognosis of SCN8A-related epilepsy and/or neurodevelopmental disorders. Epilepsia (2024)
Kaoru Yamamoto, Shimpei Baba, Takashi Saito, Eiji Nakagawa, Kenji Sugai, Masaki Iwasaki, Atsushi Fujita, Hiromi Fukuda, Takeshi Mizuguchi, Mitsuhiro Kato, Naomichi Matsumoto, Masayuki Sasaki
Synchronous Heart Rate Reduction with Suppression-Burst Pattern in KCNT1-Related Developmental and Epileptic Encephalopathies. Epilepsia open (2023)
Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Itaru Kushima, Nobuhiko Okamoto, Kei Ohashi, Kazuhiko Nakamura, Ryota Hashimoto, Yoko Hiraki, Shuraku Son, Mitsuhiro Kato, Yasunari Sakai, Hitoshi Osaka, Kimiko Deguchi, Toyojiro Matsuishi, Saoko Takeshita, Aviva Fattal-Valevski, Nina Ekhilevitch, Jun Tohyama, Patrick Yap, Wee Teik Keng, Hiroshi Kobayashi, Keiyo Takubo, Takashi Okada, Shinji Saitoh, Yuka Yasuda, Toshiya Murai, Kazuyuki Nakamura, Shouichi Ohga, Ayumi Matsumoto, Ken Inoue, Tomoko Saikusa, Tova Hershkovitz, Yu Kobayashi, Mako Morikawa, Aiko Ito, Toshiro Hara, Yota Uno, Chizuru Seiwa, Kanako Ishizuka, Emi Shirahata, Atsushi Fujita, Eriko Koshimizu, Satoko Miyatake, Atsushi Takata, Takeshi Mizuguchi, Norio Ozaki, Naomichi Matsumoto
Molecular diagnosis of 405 individuals with autism spectrum disorder. European journal of human genetics : EJHG (2023)
Kaoru Yamamoto, Shimpei Baba, Takashi Saito, Eiji Nakagawa, Kenji Sugai, Masaki Iwasaki, Atsushi Fujita, Hiromi Fukuda, Takeshi Mizuguchi, Mitsuhiro Kato, Naomichi Matsumoto, Masayuki Sasaki
Synchronous heart rate reduction with suppression-burst pattern in KCNT1-related developmental and epileptic encephalopathies. Epilepsia open (2023)
Mitsuhiro Kato, Akiko Kada, Hideaki Shiraishi, Jun Tohyama, Eiji Nakagawa, Yukitoshi Takahashi, Tomoyuki Akiyama, Akiyoshi Kakita, Noriko Miyake, Atsushi Fujita, Akiko M Saito, Yushi Inoue
Sirolimus for epileptic seizures associated with focal cortical dysplasia type II. Annals of clinical and translational neurology 9 (2) (2022)
Mitsuko Nakashima, Emanuela Argilli, Sayaka Nakano, Elliott H Sherr, Mitsuhiro Kato, Hirotomo Saitsu
De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities. Journal of human genetics (2022)
Takuya Hiraide, Tenpei Akita, Kenji Uematsu, Sachiko Miyamoto, Mitsuko Nakashima, Masayuki Sasaki, Atsuo Fukuda, Mitsuhiro Kato, Hirotomo Saitsu
A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome. Journal of human genetics (2022)
Hiroki Hoshino, Fuyuki Miya, Mitsuhiro Kato, Hideaki Kanemura
Efficacy of ethosuximide on atonic seizures with KCNB1 mutation. Pediatrics international : official journal of the Japan Pediatric Society 64 (1) (2022)
Kazuo Abe, Kumiko Ando, Mitsuhiro Kato, Hirotomo Saitsu, Mitsuko Nakashima, Shintaro Aoki, Takashi Kimura
A New Case With Cortical Malformation Caused by Biallelic Variants in LAMC3 . Neurology. Genetics 8 (3) (2022)
Mitsuko Nakashima, Emanuela Argilli, Sayaka Nakano, Elliott H Sherr, Mitsuhiro Kato, Hirotomo Saitsu
De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities. Journal of human genetics (2022)
Ilaria Parenti, Daphne Lehalle, Caroline Nava, Erin Torti, Elsa Leitão, Richard Person, Takeshi Mizuguchi, Naomichi Matsumoto, Mitsuhiro Kato, Kazuyuki Nakamura, Stella A de Man, Heidi Cope, Vandana Shashi, null null, Jennifer Friedman, Pascal Joset, Katharina Steindl, Anita Rauch, Irena Muffels, Peter M van Hasselt, Florence Petit, Thomas Smol, Gwenaël Le Guyader, Frederic Bilan, Arthur Sorlin, Antonio Vitobello, Christophe Philippe, Ingrid M B H van de Laar, Marjon A van Slegtenhorst, Philippe M Campeau, Ping Yee Billie Au, Mitsuko Nakashima, Hirotomo Saitsu, Tatsuya Yamamoto, Yumiko Nomura, Raymond J Louie, Michael J Lyons, Amy Dobson, Astrid S Plomp, M Mahdi Motazacker, Frank J Kaiser, Andrew T Timberlake, Sabine A Fuchs, Christel Depienne, Mignot Cyril
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. Human genetics 140 (7) (2021)
Kazushi Aoto, Mitsuhiro Kato, Tenpei Akita, Mitsuko Nakashima, Hiroki Mutoh, Noriyuki Akasaka, Jun Tohyama, Yoshiko Nomura, Kyoko Hoshino, Yasuhiko Ago, Ryuta Tanaka, Orna Epstein, Revital Ben-Haim, Eli Heyman, Takehiro Miyazaki, Hazrat Belal, Shuji Takabayashi, Chihiro Ohba, Atsushi Takata, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Atsuo Fukuda, Naomichi Matsumoto, Hirotomo Saitsu
ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice. Nature communications 12 (1) (2021)
Satoko Miyatake, Mitsuhiro Kato, Takuma Kumamoto, Tomonori Hirose, Eriko Koshimizu, Takaaki Matsui, Hideyuki Takeuchi, Hiroshi Doi, Keisuke Hamada, Mitsuko Nakashima, Kazunori Sasaki, Akio Yamashita, Atsushi Takata, Kohei Hamanaka, Mai Satoh, Takabumi Miyama, Yuri Sonoda, Momoko Sasazuki, Hiroyuki Torisu, Toshiro Hara, Yasunari Sakai, Yushi Noguchi, Mazumi Miura, Yoko Nishimura, Kazuyuki Nakamura, Hideyuki Asai, Nodoka Hinokuma, Fuyuki Miya, Tatushiko Tsunoda, Masami Togawa, Yukihiro Ikeda, Nobusuke Kimura, Kaoru Amemiya, Asako Horino, Masataka Fukuoka, Hiroko Ikeda, Goni Merhav, Nina Ekhilevitch, Masaki Miura, Takeshi Mizuguchi, Noriko Miyake, Atsushi Suzuki, Shouichi Ohga, Hirotomo Saitsu, Hidehisa Takahashi, Fumiaki Tanaka, Kazuhiro Ogata, Chiaki Ohtaka-Maruyama, Naomichi Matsumoto
De novo ATP1A3 variants cause polymicrogyria. Science advances 7 (13) (2021)
Sachiko Miyamoto, Mitsuhiro Kato, Kenji Sugiyama, Ryo Horiguchi, Mitsuko Nakashima, Kazushi Aoto, Hiroki Mutoh, Hirotomo Saitsu
A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies. Journal of human genetics 66 (12) (2021)
Yoshitaka Hiromoto, Yoshiteru Azuma, Yuichi Suzuki, Megumi Hoshina, Yuri Uchiyama, Satomi Mitsuhashi, Satoko Miyatake, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Mitsuhiro Kato, Naomichi Matsumoto
Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia. Human genome variation 7 (1) (2020)
Yuri Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama, Satoko Miyatake, Kohei Hamanaka, Naomi Tsuchida, Hiromi Aoi, Yoshiteru Azuma, Toshiyuki Itai, Ken Saida, Hiromi Fukuda, Futoshi Sekiguchi, Tomohiro Sakaguchi, Ming Lei, Sachiko Ohori, Masamune Sakamoto, Mitsuhiro Kato, Takayoshi Koike, Yukitoshi Takahashi, Koichi Tanda, Yuki Hyodo, Rachel Sayuri Honjo Kawahira, Debora Romeo Bertola, Chong Ae Kim, Masahide Goto, Tetsuya Okazaki, Hiroyuki Yamada, Yoshihiro Maegaki, Hitoshi Osaka, Lock Hock Ngu, Gaik-Siew Ch'ng, Keng W Teik, Manami Akasaka, Hiroshi Doi, Fumiaki Tanaka, Tomohide Goto, Long Guo, Shiro Ikegawa, Kazuhiro Haginoya, Muzhirah Haniffa, Nozomi Hiraishi, Yoko Hiraki, Satoru Ikemoto, Atsuro Daida, Shin-Ichiro Hamano, Masaki Miura, Akihiko Ishiyama, Osamu Kawano, Akane Kondo, Hiroshi Matsumoto, Nobuhiko Okamoto, Tohru Okanishi, Yukimi Oyoshi, Eri Takeshita, Toshifumi Suzuki, Yoshiyuki Ogawa, Hiroshi Handa, Yayoi Miyazono, Eriko Koshimizu, Atsushi Fujita, Atsushi Takata, Noriko Miyake, Takeshi Mizuguchi, Naomichi Matsumoto
Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses. Human mutation 42 (1) (2020)
Nodoka Hinokuma, Mitsuko Nakashima, Hideyuki Asai, Kazuyuki Nakamura, Shinjiro Akaboshi, Masataka Fukuoka, Masami Togawa, Shingo Oana, Koyo Ohno, Mariko Kasai, Chikako Ogawa, Kazuna Yamamoto, Kiyohito Okumiya, Pin Fee Chong, Ryutaro Kira, Shumpei Uchino, Tetsuhiro Fukuyama, Tomoe Shinagawa, Yohane Miyata, Yuichi Abe, Akira Hojo, Kozue Kobayashi, Yoshihiro Maegaki, Nobutsune Ishikawa, Hiroko Ikeda, Masano Amamoto, Takeshi Mizuguchi, Kazuhiro Iwama, Toshiyuki Itai, Satoko Miyatake, Hirotomo Saitsu, Naomichi Matsumoto, Mitsuhiro Kato
Clinical and genetic characteristics of patients with Doose syndrome. Epilepsia open 5 (3) (2020)
Mitsuko Nakashima, Mitsuhiro Kato, Masaru Matsukura, Ryutaro Kira, Lock-Hock Ngu, Klaske D Lichtenbelt, Koen L I van Gassen, Satomi Mitsuhashi, Hirotomo Saitsu, Naomichi Matsumoto
De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms. Journal of human genetics 65 (9) (2020)
Yuji Sugawara, Tomoko Mizuno, Kengo Moriyama, Hisako Ishiwata, Mitsuhiro Kato, Mitsuko Nakashima, Takeshi Mizuguchi, Naomichi Matsumoto
Cerebrospinal fluid abnormalities in developmental and epileptic encephalopathy with a de novo CDK19 variant. Neurology. Genetics 6 (6) (2020)
Kouhei Den, Mitsuhiro Kato, Tokito Yamaguchi, Satoko Miyatake, Atsushi Takata, Takeshi Mizuguchi, Noriko Miyake, Satomi Mitsuhashi, Naomichi Matsumoto
A novel de novo frameshift variant in SETD1B causes epilepsy. Journal of human genetics 64 (8) (2019)
Takuya Hiraide, Hikari Kaba Yasui, Mitsuhiro Kato, Mitsuko Nakashima, Hirotomo Saitsu
A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephaly. Journal of human genetics 64 (11) (2019)
Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, Takeshi Mizuguchi, Satomi Mitsuhashi, Yukitoshi Takahashi, Nobuhiko Okamoto, Hitoshi Osaka, Kazuyuki Nakamura, Jun Tohyama, Kazuhiro Haginoya, Saoko Takeshita, Ichiro Kuki, Tohru Okanishi, Tomohide Goto, Masayuki Sasaki, Yasunari Sakai, Noriko Miyake, Satoko Miyatake, Naomi Tsuchida, Kazuhiro Iwama, Gaku Minase, Futoshi Sekiguchi, Atsushi Fujita, Eri Imagawa, Eriko Koshimizu, Yuri Uchiyama, Kohei Hamanaka, Chihiro Ohba, Toshiyuki Itai, Hiromi Aoi, Ken Saida, Tomohiro Sakaguchi, Kouhei Den, Rina Takahashi, Hiroko Ikeda, Tokito Yamaguchi, Kazuki Tsukamoto, Shinsaku Yoshitomi, Taikan Oboshi, Katsumi Imai, Tomokazu Kimizu, Yu Kobayashi, Masaya Kubota, Hirofumi Kashii, Shimpei Baba, Mizue Iai, Ryutaro Kira, Munetsugu Hara, Masayasu Ohta, Yohane Miyata, Rie Miyata, Jun-Ichi Takanashi, Jun Matsui, Kenji Yokochi, Masayuki Shimono, Masano Amamoto, Rumiko Takayama, Shinichi Hirabayashi, Kaori Aiba, Hiroshi Matsumoto, Shin Nabatame, Takashi Shiihara, Mitsuhiro Kato, Naomichi Matsumoto
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy. Nature communications 10 (1) (2019)