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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Detalhes bibliográficos
Publicado no:BMC Pediatr
Main Authors: Lin, Kao-Min, Su, Geng, Wang, Fengpeng, Zhang, Xiaobin, Wang, Yuanqing, Ren, Jun, Wang, Xin, Yao, Yi, Zhou, Ying
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6824109/
https://ncbi.nlm.nih.gov/pubmed/31672125
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-019-1796-9
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