Novel mutation of SCN9A gene causing generalized epilepsy with febrile seizures plus in a Chinese family

Generalized epilepsy with febrile seizures plus (GEFS+) is a complex familial epilepsy syndrome. It is mainly caused by mutations in SCN1A gene, encoding type 1 voltage-gated sodium channel α-subunit (NaV1.1), and GABRA1 gene, encoding the α1 subunit of the γ-aminobutyric acid type A (GABA(A)) recep...

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Detalles Bibliográficos
Autores principales: Zhang, Tian, Chen, Mingwu, Zhu, Angang, Zhang, Xiaoguang, Fang, Tao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2020
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7359139/
https://www.ncbi.nlm.nih.gov/pubmed/32062735
http://dx.doi.org/10.1007/s10072-020-04284-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7359139/
https://www.ncbi.nlm.nih.gov/pubmed/32062735
http://dx.doi.org/10.1007/s10072-020-04284-x

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