Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons

Pathogenic heterozygous variants in SCN2A, which encodes the neuronal sodium channel Na(V)1.2, cause different types of epilepsy or intellectual disability (ID)/autism without seizures. Previous studies using mouse models or heterologous systems suggest that Na(V)1.2 channel gain-of-function typical...

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Detalles Bibliográficos
Autores principales: Asadollahi, R, Delvendahl, I, Muff, R, Tan, G, Rodríguez, D G, Turan, S, Russo, M, Oneda, B, Joset, P, Boonsawat, P, Masood, R, Mocera, M, Ivanovski, I, Baumer, A, Bachmann-Gagescu, R, Schlapbach, R, Rehrauer, H, Steindl, K, Begemann, A, Reis, A, Winkler, J, Winner, B, Müller, M, Rauch, A
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/PMC10281746/
https://www.ncbi.nlm.nih.gov/pubmed/37010102
http://dx.doi.org/10.1093/hmg/ddad048

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