Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome.

Seizure(2019)

引用 28|浏览34
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摘要
•The significant utility of NGS panel in the genetic diagnosis of pediatric epilepsy.•KCND3 pathogenic variants might be responsible for a wider phenotypic spectrum, including childhood epileptic encephalopathy.•GRIN1 and HCN1 are candidate genes for Dravet and Dravet-like phenotypes.
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关键词
Epilepsy,KCND3,Dravet syndrome,GRIN1HCN1
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