Genetics and pathology of voltage-gated Ca2+ channels.
Neurotransmitter release, neuronal excitation, and a whole variety of other neuronal functions are controlled by the intra/extra cellular Ca2+ gradient. The major pathway for entry of Ca2+ into the excitable cells is mediated by voltage-gated Ca2+ channels. Several functional subclasses of voltage-dependent Ca2+ channels have been identified, based on their pharmacological, biophysical properties, and molecular cloning. Recently, three human diseases (familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia 6) were added to the growing list of ion-channel disorders, all caused by different mutations in the P/Q-type Ca2+ channel alpha 1 subunit. Molecular analysis of the Ca2+ channelopathies will provide new insights into the role, function and pathology of these voltage-gated Ca2+ channels.
Ophoff
R A
RA
MGC-Department of Human Genetics, Leiden University Medical Center, The Netherlands. ophoff@ngl.ucsf.edu
Terwindt
G M
GM
Ferrari
M D
MD
Frants
R R
RR
D000818:Animals; D015220:Calcium Channels / Q000737:chemistry / Q000145:classification / Q000235:genetics* / Q000502:physiology*; D006801:Humans; D015640:Ion Channel Gating; D018482:Muscle, Skeletal; D009135:Muscular Diseases; D009474:Neurons
D015220:Calcium Channels