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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Vydáno v:Hum Mol Genet
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2015
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On-line přístup: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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