Electrophysiological features: The next precise step for SCN2A developmental epileptic encephalopathy.

Pu MiaoSiyang TangJia YeJianda WangYuting LouBijun ZhangXiaoxiao XuXiaoquan ChenYuezhou LiJianhua Feng

Published in: Molecular genetics & genomic medicine (2020)

These findings provided the insights into the phenotype-genotype-funotype relationships of SCN2A-related DEE. The preliminary evaluation using the distinct hints of GOF and LOF helped plan the treatment, and the next precise step should be electrophysiological study.

Keyphrases

combination therapy
smoking cessation