Titre:
  • A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.
Auteur:Coutelier, Marie; Blesneac, Iulia; Monteil, Arnaud; Monin, Marie Lorraine; Ando, Kunie; Mundwiller, Emeline; Brusco, Alfredo; Le Ber, Isabelle; Anheim, Mathieu; Castrioto, Anna; Duyckaerts, Charles; Brice, Alexis; Dürr, Alexandra; Lory, Philippe; Stevanin, Giovanni
Informations sur la publication:American journal of human genetics, 97, 5, page (726-737)
Statut de publication:Publié, 2015-11
Sujet CREF:Sciences bio-médicales et agricoles
MeSH keywords:Adolescent
Adult
Aged
Amino Acid Sequence
Calcium -- metabolism
Calcium Channels, T-Type -- genetics
Cerebellar Ataxia -- genetics -- metabolism -- pathology
Child
Electrophysiology
Female
Genes, Dominant
HEK293 Cells
Humans
Male
Middle Aged
Molecular Sequence Data
Mutation -- genetics
Neurons -- metabolism -- pathology
Pedigree
Phenotype
Purkinje Cells -- metabolism -- pathology
Sequence Homology, Amino Acid
Young Adult
Langue:Anglais
Identificateurs:urn:issn:0002-9297
info:doi/10.1016/j.ajhg.2015.09.007
info:pii/S0002-9297(15)00371-7
info:pmid/26456284
PMC4667105