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The CACNA1A gene encodes the pore-forming α1 subunit of voltage-gated P/Q type Ca2+ channel (Cav2.1), which mediates the intracellular entry of Ca2+ ions. It is located in the chromosome locus 19p13.13, and is predominantly expressed in the central nervous system.[1] CACNA1A gene mutations are a well-known cause of familial hemiplegic migraine, episodic ataxia type 2 and spinocerebellar ataxia type 6.[2] CACNA1A mutations can be also associated with several epileptic phenotypes including typical absence seizures, focal seizures, and epileptic encephalopathies.