Article
A novel TRPA1 variant is associated with carbamazepine-responsive cramp-fasciculation syndrome.
Clinical genetics - 1 Jan 2018
Nirenberg M J, Chaouni R, Biller T M, Gilbert R M, Paisán-Ruiz C
Abstract excerpt
Cramp-fasciculation syndrome (CFS) is a rare muscle hyperexcitability syndrome that presents with muscle cramps, fasciculations, and stiffness, as well as pain, fatigue, anxiety, hyperreflexia, and paresthesias. Although familial cases have been reported, a genetic etiology has not yet been identified. We performed whole-exome sequencing followed by validation and cosegregation analyses on a father-son pair with...
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