Identification of a novel TRPA1 mutation associated with carbamazepine-responsive cramp-fasciculation syndrome (S45.008)

Conclusions:Autosomal dominant CFS is associated with a novel mutation in the putative selectivity filter of TRPA1. These findings further clarify the functional role of human TRPA1, and underscore the importance of this ion channel as a potential therapeutic target.Study Supported by: This work was supported by the National Institute of Neurological Disorders and Stroke of the National Institute of Health (R01NS079388). MJN also receives support from the New York Stem Cell Foundation.Disclosure: Dr. Biller has nothing to disclose. Dr. Paisan-Ruiz has nothing to disclose. Dr. Gilbert has nothing to disclose. Dr. Chaouni has nothing to disclose. Dr. Nirenberg has nothing to disclose.
Source: Neurology - Category: Neurology Authors: Tags: Peripheral Nerve Disorders Source Type: research