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Article

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

Molecular genetics & genomic medicine - 1 Jul 2020

Miao Pu, Tang Siyang, Ye Jia, Wang Jianda, Lou Yuting, Zhang Bijun, Xu Xiaoxiao, Chen Xiaoquan, Li Yuezhou, Feng Jianhua

Abstract excerpt

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 channel protein expressed in HEK293T cells were characterized by whole-cell patch-clamp recording. RESULTS: The phenotypes of...

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Action Potentials
Anticonvulsants
Developmental Disabilities
Gain of Function Mutation
Ion Channel Gating

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Loss of Function Mutation

NAV1.2 Voltage-Gated Sodium Channel

Sodium Channel Blockers

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PMID: 32400968
DOI: 10.1002/mgg3.1250
PMCID: PMC7336724

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