Article
SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.
Human molecular genetics - 15 Dec 2015
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
Abstract excerpt
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-exome sequencing analyses in a large Spanish family with ET, in which two patients also developed epilepsy. To further...
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