Case Report: Causative De novo Variants of KCNT2 for Developmental and Epileptic Encephalopathy

Objective: KCNT2 gene mutations had been described to cause developmental and epileptic encephalopathies (DEEs). In this study, we presented the detailed clinical features and genetic analysis of two unrelated patients carrying two de novo variants in KCNT2 and reviewed eight different cases availab...

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Detalles Bibliográficos
Autores principales: Gong, Pan, Jiao, Xianru, Yu, Dan, Yang, Zhixian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8277933/
https://www.ncbi.nlm.nih.gov/pubmed/34276763
http://dx.doi.org/10.3389/fgene.2021.649556

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8277933/
https://www.ncbi.nlm.nih.gov/pubmed/34276763
http://dx.doi.org/10.3389/fgene.2021.649556

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