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SCN8A Encephalopathy: Case Report and Literature Review

Epileptic encephalopathy is a condition resulting from extreme forms of intractable childhood epilepsy. The disease can cause severe delays in cognitive, sensory, and motor function development, in addition to being fatal in some cases. Missense mutations of SCN8A, which encodes Nav1.6, one of the m...

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Detalles Bibliográficos
Autores principales: Fan, Hueng-Chuen, Lee, Hsiu-Fen, Chi, Ching-Shiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8167728/
https://www.ncbi.nlm.nih.gov/pubmed/33915942
http://dx.doi.org/10.3390/neurolint13020014