A Novel SCN8A mutation in a case of early-onset infantile epileptic encephalopathy: A Case Report

SCN8A gene encodes sodium channel alpha subunit Na(v)1.6, and its mutation is associated with Early Infantile Epileptic Encephalopathy-13 (EIEE-13). The mean age of onset is 4-5 months. The phenotype of SCN8A mutation varies from benign epilepsy syndromes, movement disorder, intellectual disability...

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Detalles Bibliográficos
Autores principales: Keshri, Swasti, Goel, Anil Kumar, Shah, Seema, Garg, Ankit Kumar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mattioli 1885 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10523044/
https://www.ncbi.nlm.nih.gov/pubmed/35188110
http://dx.doi.org/10.23750/abm.v92iS1.11781

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