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

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

Abstract Background To investigate the relationships among phenotypes, genotypes, and funotypes of SCN2A‐related developmental epileptic encephalopathy (DEE). Methods We enrolled five DEE patients with five de novo variants of the SCN2A. Functional analysis and pharmacological features of Nav1.2 cha...

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Bibliographic Details
Main Authors: Pu Miao, Siyang Tang, Jia Ye, Jianda Wang, Yuting Lou, Bijun Zhang, Xiaoxiao Xu, Xiaoquan Chen, Yuezhou Li, Jianhua Feng
Format: Article
Language:English
Published: Wiley 2020-07-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
developmental epileptic encephalopathy
patch‐clamp
precise treatment
SCN2A
Online Access:https://doi.org/10.1002/mgg3.1250

Internet

https://doi.org/10.1002/mgg3.1250

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