Publication: Genetics and pathology of voltage-gated ca2+ channels
Authors
Ophoff, R.A. ; Terwindt, G.M. ; Ferrari, M.D. ; Frants, R.R.
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Publisher
Murcia : F. Hernández
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DOI
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info:eu-repo/semantics/article
Description
Abstract
Neurotransmitter release, neuronal excitation,
and a whole variety of other neuronal functions
are controlled by the intralextra 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/Qtype
ca2+ channel a1 subunit. Molecular analysis of the
ca2+ channelopathies will provide new insights into the
role, function and pathology of these voltage-gated ca2+
channels.
Citation
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