title: [Cerebellar ataxia and absence epilepsy: genes, channels, neurons and mice].
abstract: OBJECTIVE
  To briefly review the most significant progress made in the fields of molecular genetics and cellular electrophysiology that have contributed to reveal that some paroxysmal disorders including epilepsy, are linked to voltage gated Ca2+ (CaV) channel abnormalities.
  
  
  METHODS
  Recent studies showed that the gene encoding the P/Q type Ca2+ channel is altered in a number of mutant mice strains. Phenotypic alterations of these mice include cerebellar dysfunction and absence epilepsy.
  
  
  CONCLUSIONS
  These mutant mice offer a unique opportunity to elucidate the molecular, developmental, and physiological mechanisms underlying CaV channel activity in the brain, and provide the possibility to link specific CaV channel subunits to cellular disease processes, including altered excitability, synaptic signaling, and cell death.
authors.affiliation: Departamento de Fisiología, Biofísica y Neurociencias, Centro de Investigación y de Estudios Avanzados, Instituto Politécnico Nacional, México DF, México.
authors.forename: A
authors.initials: A
authors.lastname: Sandoval-Romero
authors.forename: R
authors.initials: R
authors.lastname: Félix-Grijalva
mesh_terms: D000818:Animals; D015220:Calcium Channels / Q000737:chemistry / Q000145:classification / Q000235:genetics / Q000378:metabolism*; D002524:Cerebellar Ataxia / Q000378:metabolism*; D004832:Epilepsy, Absence / Q000378:metabolism*; D006801:Humans; D051379:Mice; D008815:Mice, Inbred Strains; D009154:Mutation; D009474:Neurons / Q000378:metabolism*; D010641:Phenotype; D017433:Protein Structure, Secondary; D021122:Protein Subunits / Q000737:chemistry / Q000235:genetics / Q000378:metabolism
chemical_list: D015220:Calcium Channels; D021122:Protein Subunits