Referenced in: none

Automatically associated channels: Cav1.1 , Cav2.1

Title: [Physiopathology of calcium channels: identification of calcium channelopathies]

Authors: P Lory, A Monteil

Journal, date & volume: C. R. Seances Soc. Biol. Fil., 1998 , 192, 137-47

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/9759359

Abstract
Since a few years, many mutations in genes encoding voltage-dependent ion channels have been identified. The related disorders are quoted as "channelopathies". These mutations are responsible for several skeletal muscle, brain, heart or kidney diseases. Abnormal calcium channels genes are responsible for hypokaleamic periodic paralysis (CACNA1S) as well as some forms of ataxia, cerebellar degeneration and migraine (CACNA1A). The preliminary studies of the recently discovered calcium channelopathies are undergoing. Both in vitro and in vivo studies of the diseased genes should help to the understanding of the related pathologies as well as to extend our knowledge of calcium channel function. In addition, autoantibodies against calcium channels are retrieved in some autoimmune diseases, such as Lambert-Eaton myasthenic syndrome (LEMS). Complementary studies are necessary to identify the precise implication of calcium channels in these auto-immune channelopathies.