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Autosomal dominant sleep-related hypermotor epilepsy associated with a novel mutation of KCNT1

Autosomal dominant sleep-related hypermotor epilepsy (ADSHE) is characterized by severe sleep-related rigid hypermotor seizures. The pathogenic genes of ADSHE include genes encoding subunits of the neuronal nicotinic acetylcholine receptor, KCNT1, DEPDC5, NPRL2/3, CABP4, and CRH. Individuals with KC...

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Detalles Bibliográficos
Autores principales:	Lu, Jinyu, Zhao, Gaohua, Lv, Dayao, Cao, Lanxiao, Zhao, Guohua
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	De Gruyter 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9438967/ https://www.ncbi.nlm.nih.gov/pubmed/36117860 http://dx.doi.org/10.1515/tnsci-2022-0241

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