Emerging evidence of genotype–phenotype associations of developmental and epileptic encephalopathy due to KCNC2 mutation: Identification of novel R405G

Emerging evidence of genotype–phenotype associations of developmental and epileptic encephalopathy due to KCNC2 mutation: Identification of novel R405G

Developmental and epileptic encephalopathies (DEEs) have high genetic heterogeneity, and DEE due to the potassium voltage-gated channel subfamily C member 2 (KCNC2) variant remains poorly understood, given the scarcity of related case studies. We report on two unrelated Chinese patients, an 11-year-...

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Bibliographic Details
Main Authors: Sumei Wang, Yejing Yu, Xu Wang, Xiaolong Deng, Jiehui Ma, Zhisheng Liu, Weiyue Gu, Dan Sun
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-08-01
Series:Frontiers in Molecular Neuroscience
Subjects:
developmental and epileptic encephalopathy
whole-exome sequencing
potassium channels
KCNC2
Kv3.2
R405G
Online Access:https://www.frontiersin.org/articles/10.3389/fnmol.2022.950255/full

Internet

https://www.frontiersin.org/articles/10.3389/fnmol.2022.950255/full

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