A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report

BACKGROUND: Epilepsy is a complex disorder caused by various factors, including genetic aberrance. Recent studies have identified an essential role of the sodium channel Nav1.6, encoded by the gene SCN8A, in epileptic encephalopathy. CASE PRESENTATION: Using parent-offspring trio targeted-exome sequ...

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Detalles Bibliográficos
Autores principales: Lin, Kao-Min, Su, Geng, Wang, Fengpeng, Zhang, Xiaobin, Wang, Yuanqing, Ren, Jun, Wang, Xin, Yao, Yi, Zhou, Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6824109/
https://www.ncbi.nlm.nih.gov/pubmed/31672125
http://dx.doi.org/10.1186/s12887-019-1796-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6824109/
https://www.ncbi.nlm.nih.gov/pubmed/31672125
http://dx.doi.org/10.1186/s12887-019-1796-9

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