Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
CACNA1A
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit

19p13.2-p13.1
* Episodic ataxia, type 2 - EA2 (7.9, 7.10, 13.6, 13.30, 13.35)
* Cerebellar ataxia, paroxymal, acetazolamide-responsive - CAPA (7.9, 7.10, 13.6, 13.30, 13.35)
* Acetazolamide-responsive hereditary paroxymal cerebellar ataxia - APCA (7.9, 7.10, 13.6, 13.30, 13.35)
* Migraine familial hemiplegic 1, with progressive cerebellar ataxia - MHP1 (7.9, 7.10, 13.6, 13.30, 13.35)
* Hemiplegic migraine, familial - FHM1 (7.9, 7.10, 13.6, 13.30, 13.35)
* Spinocerebellar ataxia 6 - SCA6 (7.9, 7.10, 13.6, 13.30, 13.35)
* Cerebellar ataxia, pure - CACNA1A (7.9, 7.10, 13.6, 13.30, 13.35)

Gene symbol and protein	Gene Location	All allelic disease phenotypes - locus/disease symbols
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	19p13.2-p13.1	* Episodic ataxia, type 2 - EA2 (7.9, 7.10, 13.6, 13.30, 13.35) * Cerebellar ataxia, paroxymal, acetazolamide-responsive - CAPA (7.9, 7.10, 13.6, 13.30, 13.35) * Acetazolamide-responsive hereditary paroxymal cerebellar ataxia - APCA (7.9, 7.10, 13.6, 13.30, 13.35) * Migraine familial hemiplegic 1, with progressive cerebellar ataxia - MHP1 (7.9, 7.10, 13.6, 13.30, 13.35) * Hemiplegic migraine, familial - FHM1 (7.9, 7.10, 13.6, 13.30, 13.35) * Spinocerebellar ataxia 6 - SCA6 (7.9, 7.10, 13.6, 13.30, 13.35) * Cerebellar ataxia, pure - CACNA1A (7.9, 7.10, 13.6, 13.30, 13.35)