Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy

OBJECTIVE: Monoallelic de novo gain-of-function variants in the voltage gated sodium channel SCN8A are one of the recurrent causes of severe developmental and epileptic encephalopathy (DEE). In addition, a small number of de novo or inherited monoallelic loss-of-function variants have been found in...

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Vydáno v:Epilepsia
Hlavní autoři: Wengert, Eric R., Tronhjem, Cathrine E., Wagnon, Jacy L., Johannesen, Katrine M, Petit, Hayley, Krey, Ilona, Saga, Anusha U., Panchal, Payal S., Strohm, Samantha M., Lange, Jörn, Kamphausen, Susanne B, Rubboli, Guido, Lemke, Johannes R., Gardella, Elena, Patel, Manoj K., Meisler, Miriam H., Møller, Rikke S.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2019
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6842408/
https://ncbi.nlm.nih.gov/pubmed/31625145
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/epi.16371
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