De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

摘要

Using gene panel and whole exome sequencing, Chemin et al. show that de novo events are a major genetic cause of childhood-onset cerebellar atrophy. De novo gain of function mutations in the calcium channel CACNA1G/Cav3.1 give rise to a cerebellar syndrome via a potentially druggable disease mechanism.