KCNT1 gain-of-function in two epilepsy phenotypes is reversed by quinidine

OBJECTIVE: Mutations in KCNT1 have been implicated in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and epilepsy of infancy with migrating focal seizures (EIMFS). More recently, a whole exome sequencing study of epileptic encephalopathies identified an additional de novo mutation in on...

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Detalhes bibliográficos
Main Authors: Milligan, Carol J., Li, Melody, Gazina, Elena V., Heron, Sarah E., Nair, Umesh, Trager, Chantel, Reid, Christopher A., Venkat, Anu, Younkin, Donald P., Dlugos, Dennis J., Petrovski, Slavé, Goldstein, David B., Dibbens, Leanne M., Scheffer, Ingrid E., Berkovic, Samuel F, Petrou, Steven
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4158617/
https://ncbi.nlm.nih.gov/pubmed/24591078
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.24128
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