A novel KCNT1 mutation in a Chinese family with severe autosomal-dominant nocturnal frontal lobe epilepsy

We describe a Chinese family with severe autosomal-dominant nocturnal frontal lobe epilepsy (ADNFLE) and psychiatric problems in whom whole-exome family trio sequencing identified a heterozygous mutation in the potassium channel subfamily T, member 1 (KCNT1), a sodium-gated potassium channel gene, w...

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Detalles Bibliográficos
Autores principales: Xie, Na, Qin, Weiwei, Deng, Jianzhong, Qi, Jinxing, Niu, Dewang, Lu, Guifeng, Wang, Qun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: De Gruyter 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8424967/
https://www.ncbi.nlm.nih.gov/pubmed/34567798
http://dx.doi.org/10.1515/tnsci-2020-0182

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8424967/
https://www.ncbi.nlm.nih.gov/pubmed/34567798
http://dx.doi.org/10.1515/tnsci-2020-0182

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