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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Detalles Bibliográficos
Autores principales: Wang, Sumei, Yu, Yejing, Wang, Xu, Deng, Xiaolong, Ma, Jiehui, Liu, Zhisheng, Gu, Weiyue, Sun, Dan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9453199/
https://www.ncbi.nlm.nih.gov/pubmed/36090251
http://dx.doi.org/10.3389/fnmol.2022.950255

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