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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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Dades bibliogràfiques
Publicat a:Neurol Int
Autors principals: Fan, Hueng-Chuen, Lee, Hsiu-Fen, Chi, Ching-Shiang
Format: Artigo
Idioma:Inglês
Publicat: MDPI 2021
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8167728/
https://ncbi.nlm.nih.gov/pubmed/33915942
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/neurolint13020014
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