An SCN1A gene missense variant in a Chinese Tujia ethnic family with genetic epilepsy with febrile seizures plus

Genetic epilepsy with febrile seizures plus (GEFSP) is a familial epileptic syndrome that is genetically heterogeneous and inherited in an autosomal dominant form in most cases. To date, at least seven genes have been reported to associate with GEFSP. This study aimed to identify the disease-causing...

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Detalles Bibliográficos
Autores principales: Li, Ling, Yuan, Lamei, Zheng, Wen, Yang, Yan, Deng, Xiong, Song, Zhi, Deng, Hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10412811/
https://www.ncbi.nlm.nih.gov/pubmed/37576022
http://dx.doi.org/10.3389/fneur.2023.1229569

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10412811/
https://www.ncbi.nlm.nih.gov/pubmed/37576022
http://dx.doi.org/10.3389/fneur.2023.1229569

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