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Clinical analysis and functional characterization of KCNQ2-related developmental and epileptic encephalopathy

BACKGROUND: Developmental and epileptic encephalopathy (DEE) is a condition characterized by severe seizures and a range of developmental impairments. Pathogenic variants in KCNQ2, encoding for potassium channel subunit, cause KCNQ2-related DEE. This study aimed to examine the relationships between...

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Detalles Bibliográficos
Autores principales:	Ye, Jia, Tang, Siyang, Miao, Pu, Gong, Zhefeng, Shu, Qiang, Feng, Jianhua, Li, Yuezhou
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Molecular Neuroscience
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10366601/ https://www.ncbi.nlm.nih.gov/pubmed/37497102 http://dx.doi.org/10.3389/fnmol.2023.1205265

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