SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes

Dravet syndrome is a severe epileptic encephalopathy, characterized by (febrile) seizures, behavioural problems and developmental delay. Eighty per cent of patients with Dravet syndrome have a mutation in SCN1A, encoding Na(v)1.1. Milder clinical phenotypes, such as GEFS+ (generalized epilepsy with...

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Detalles Bibliográficos
Autores principales: van Hugte, Eline J H, Lewerissa, Elly I, Wu, Ka Man, Scheefhals, Nicky, Parodi, Giulia, van Voorst, Torben W, Puvogel, Sofia, Kogo, Naoki, Keller, Jason M, Frega, Monica, Schubert, Dirk, Schelhaas, Helenius J, Verhoeven, Judith, Majoie, Marian, van Bokhoven, Hans, Nadif Kasri, Nael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10689919/
https://www.ncbi.nlm.nih.gov/pubmed/37467479
http://dx.doi.org/10.1093/brain/awad245

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