Clinical and Functional Features of Epilepsy-Associated In-Frame Deletion Variants in SCN1A

OBJECTIVE: Naturally occurring in-frame deletion is a unique type of genetic variations, causing the loss of one or more amino acids of proteins. A number of in-frame deletion variants in an epilepsy-associated gene SCN1A, encoding voltage gated sodium channel alpha unit 1.1 (Na(v)1.1), have been re...

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Detalles Bibliográficos
Autores principales: Wang, Jing-Yang, Tang, Bin, Sheng, Wen-Xiang, Hua, Li-Dong, Zeng, Yang, Fan, Cui-Xia, Deng, Wei-Yi, Gao, Mei-Mei, Zhu, Wei-Wen, He, Na, Su, Tao
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/PMC8964123/
https://www.ncbi.nlm.nih.gov/pubmed/35359575
http://dx.doi.org/10.3389/fnmol.2022.828846

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8964123/
https://www.ncbi.nlm.nih.gov/pubmed/35359575
http://dx.doi.org/10.3389/fnmol.2022.828846

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