癫痫
表型
离子通道病
自闭症谱系障碍
智力残疾
医学
队列
共济失调
遗传学
自闭症
生物信息学
神经科学
生物
内科学
精神科
基因
作者
Claire Reynolds,Mary D. King,Kathleen M. Gorman
标识
DOI:10.1016/j.ejpn.2019.12.016
摘要
Pathogenic variants in SCN2A are reported in a spectrum of neurodevelopmental disorders including developmental and epileptic encephalopathies, benign familial neonatal-infantile seizures, episodic ataxia, and autism spectrum disorder and intellectual disability with and without seizures. To date, more than 300 patients with SCN2A variants have been published, the majority presenting with epilepsy. Large cohort studies and variant-specific electrophysiology, have enabled the delineation of different SCN2A-epilepsy phenotypes, phenotype-genotype correlations, prediction of pharmacosensitivity to sodium channel blockers and long-term prognostication for clinicians and families. Herein, we summarise the core phenotypes of SCN2A-related epilepsy, genotype-phenotype correlations, response to medication and future research.
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