[Cerebellar ataxia and absence epilepsy: genes, channels, neurons and mice]

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.

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.

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.