Identification of five novel SCN1A variants

BACKGROUND: Epilepsy is characterized by recurrent unprovoked seizures. Mutations in the voltage-gated sodium channel alpha subunit 1 (SCN1A) gene are the main monogenic cause of epilepsy. Type and location of variants make a huge difference in the severity of SCN1A disorder, ranging from the mild p...

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Detalles Bibliográficos
Autores principales: Zeng, Baitao, Zhang, Haoyi, Lu, Qing, Fu, Qingzi, Yan, Yang, Lu, Wan, Ma, Pengpeng, Feng, Chuanxin, Qin, Jiawei, Luo, Laipeng, Yang, Bicheng, Zou, Yongyi, Liu, Yanqiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Behavioral Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10663289/
https://www.ncbi.nlm.nih.gov/pubmed/38025388
http://dx.doi.org/10.3389/fnbeh.2023.1272748

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10663289/
https://www.ncbi.nlm.nih.gov/pubmed/38025388
http://dx.doi.org/10.3389/fnbeh.2023.1272748

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