Epilepsy Course and Developmental Trajectories in STXBP1 -DEE.
Ganna BalaguraJulie XianAntonella RivaFrancesca MarcheseBruria Ben ZeevLoreto RiosDeepa SirsiPatrizia AccorsiElisabetta AmadoriGuja AstreaSimona BaldassariFrancesca BeccariaAntonella BoniMauro BudettaGaetano CantalupoGiuseppe CapovillaElisabetta CesaroniValentina ChiesaAntonietta CoppolaRobertino DilenaRaffaella FaggioliAnnarita FerrariElena FioriniFrancesca MadiaElena GennaroThea GiacominiLucio GiordanoMichele IacominoSimona LattanziCarla MariniMaria Margherita MancardiMassimo MastrangeloTullio MessanaCarlo MinettiLino NobiliAmanda PapaAntonia ParmeggianiTiziana PisanoAngelo RussoVincenzo SalpietroSalvatore SavastaMarcello ScalaAndrea AccogliBarbara ScelsaPaolo ScudieriAlberto SpaliceNicola SpecchioMarina TrivisanoMichal TzadokMassimiliano ValerianiMaria Stella VariAlberto VerrottiFederico VigevanoAglaia VignoliRuud F G ToonenFederico ZaraIngo HelbigPasquale StrianoPublished in: Neurology. Genetics (2022)
-DEE presents with 2 main trajectories, with either early seizure remission or drug-resistant epilepsy, and a range of neurodevelopmental outcomes from mild to profound intellectual disability. Age at seizure onset is the only epilepsy-related feature associated with neurodevelopment outcome. These findings can inform future dedicated natural history studies and trial design.
Keyphrases
- intellectual disability
- drug resistant
- temporal lobe epilepsy
- autism spectrum disorder
- multidrug resistant
- acinetobacter baumannii
- depressive symptoms
- machine learning
- study protocol
- deep learning
- phase iii
- phase ii
- randomized controlled trial
- disease activity
- case control
- systemic lupus erythematosus
- open label
- cystic fibrosis
- congenital heart disease