SCN4A Pore Mutation Pathogenetically Contributes to Autosomal Dominant Essential Tremor and May Increase Susceptibility to Epilepsy
نویسندگان
چکیده
منابع مشابه
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-exome sequencing analyses in a large Spanish family with ET, in which two patients also developed e...
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Sir, We would like to thank Striano et al. (2013) for their remarks on our paper and would like to comment on some of the mentioned points. We agree that it is important to pay close attention to the correct classification of new syndromes such as familial cortical myoclonic tremor with epilepsy (FCMTE) as any inconsistencies will hamper the discovery of the underlying pathophysiology. Summing ...
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ژورنال
عنوان ژورنال: Biophysical Journal
سال: 2016
ISSN: 0006-3495
DOI: 10.1016/j.bpj.2015.11.657