SCN1A-Related Epilepsy: Novel Mutations and Rare Phenotypes

OBJECTIVES: To expand the genotypes and phenotypes of sodium voltage-gated channel alpha subunit 1 (SCN1A)-related epilepsy. METHODS: We retrospectively collected the clinical and genetic information of 22 epilepsy patients (10 males, 12 females; mean: 9.2 ± 3.9 years; 3.9–20.3 years) carrying 22 va...

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Detalles Bibliográficos
Autores principales: Ma, Rui, Duan, Yiran, Zhang, Liping, Qi, Xiaohong, Zhang, Lu, Pan, Sipei, Gao, Lehong, Wang, Chaodong, Wang, Yuping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9162153/
https://www.ncbi.nlm.nih.gov/pubmed/35663268
http://dx.doi.org/10.3389/fnmol.2022.826183

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9162153/
https://www.ncbi.nlm.nih.gov/pubmed/35663268
http://dx.doi.org/10.3389/fnmol.2022.826183

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