Article
A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Cav3.2 T-type channel activity.
Molecular brain - 6 Mar 2020
Stringer Robin N, Jurkovicova-Tarabova Bohumila, Huang Sun, Haji-Ghassemi Omid, Idoux Romane, Liashenko Anna, Souza Ivana A, Rzhepetskyy Yuriy, Lacinova Lubica, Van Petegem Filip, Zamponi Gerald W, Pamphlett Roger, Weiss Norbert
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by the progressive loss of cortical, brain stem and spinal motor neurons that leads to muscle weakness and death. A previous study implicated CACNA1H encoding for Cav3.2 calcium channels as a susceptibility gene in ALS. In the present study, two heterozygous CACNA1H variants were identified by whole genome sequencing in a small...
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