SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy

Essential tremor (ET) is the most prevalent movement disorder, affecting millions of people in the USA. Although a positive family history is one of the most important risk factors for ET, the genetic causes of ET remain unknown. In an attempt to identify genetic causes for ET, we performed whole-ex...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Bergareche, Alberto, Bednarz, Marcin, Sánchez, Elena, Krebs, Catharine E., Ruiz-Martinez, Javier, De La Riva, Patricia, Makarov, Vladimir, Gorostidi, Ana, Jurkat-Rott, Karin, Marti-Masso, Jose Felix, Paisán-Ruiz, Coro
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4654061/
https://ncbi.nlm.nih.gov/pubmed/26427606
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv410
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