De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene - Chemin, Jean; Siquier-Pernet, Karine; Nicouleau, Michaël; Barcia, Giulia; Ahmad, Ali; Medina-Cano, Daniel; Hanein, Sylvain; Altin, Nami; Hubert, Laurence; Bole-Feysot, Christine; Fourage, Cécile; Nitschké, Patrick; et al. (Brain (London, England : 1878), 2018)
Keywords: Adolescent; Adult; Atrophy - pathology; Brain - pathology; Calcium - metabolism; Calcium Channels - genetics; Calcium Channels, T-Type - genetics; Calcium Channels, T-Type - metabolism; Cerebellar Ataxia - genetics; Cerebellar Ataxia - physiopathology; Cerebellar Diseases - complications; Cerebellum - pathology; Child; Child, Preschool; Cohort Studies; Developmental Disabilities - genetics; Female; Gain of Function Mutation - genetics; Genetics; Humans; Intellectual Disability - genetics; Life Sciences; Male; Microcephaly - genetics; Mutation; Pedigree; Phenotype; Purkinje Cells - pathology; voltage-gated calcium channel; mutation; cerebellar atrophy; 3.1; Ca; de novo mutation; Cav3.1; CACNA1G