Genetics and pathology of voltage-gated Ca2+ channels

• Ophoff, R.A. ^[1] ; Terwindt, G.M. ^[1] ; Ferrari, M.D. ^[1] ; Frants, R.R. ^[2]
  1. [1] Leiden University Medical Center

     Leiden University Medical Center

     Países Bajos

     
  2. [2] MGC-Department of Human Genetics
• Localización: Histology and histopathology: cellular and molecular biology, ISSN-e 1699-5848, ISSN 0213-3911, Vol. 13, Nº. 3, 1998, págs. 827-836
• Idioma: inglés
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• Resumen

  • 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.