Article
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.
Brain : a journal of neurology - 1 Jul 2018
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, Thevenon Julien, Rio Marlène, Blanc Pierre, Vidal Céline, Bahi-Buisson Nadia, Desguerre Isabelle, Munnich Arnold, Lyonnet Stanislas, Boddaert Nathalie, Fassi Emily, Shinawi Marwan, Zimmerman Holly, Amiel Jeanne, Faivre Laurence, Colleaux Laurence, Lory Philippe, Cantagrel Vincent
Abstract excerpt
Cerebellar atrophy is a key neuroradiological finding usually associated with cerebellar ataxia and cognitive development defect in children. Unlike the adult forms, early onset cerebellar atrophies are classically described as mostly autosomal recessive conditions and the exact contribution of de novo mutations to this phenotype has not been assessed. In contrast, recent studies pinpoint the high prevalence of...
Topics
- Adolescent
- Adult
- Atrophy
- Brain
- Calcium
- Calcium Channels
- Calcium Channels, T-Type
- Cerebellar Ataxia