Spotlight on the March 19 Issue

Abstract

The chloride channel responsible for myotonia, long believed to reside only in muscle, is also found in brain. This study illustrates how exome screenings lead to the discovery of shared CNS expression of voltage-gated ion channels in disparate tissues, pointing to interesting and sometimes occult comorbid neurologic syndromes. See p. 1078 From editorialists Berkovic & Kapur: “Perhaps patients with myotonia should be carefully screened for epilepsy. In addition, perhaps patients with idiopathic generalized epilepsy should be screened for subtle myotonia to look for those carrying CLCN1 gene mutation.” See p. 1074 In this trial, patients …