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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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Dades bibliogràfiques
Publicat a:Hum Mol Genet
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2015
Matèries:
Accés en línia: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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