Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
CACNA1A Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit       | 19p13.13 | * Episodic ataxia, type 2 - EA2 (7.9, 7.10, 13.6, 13.48, 13.54)* Cerebellar ataxia, paroxymal, acetazolamide-responsive - CAPA (7.9, 7.10, 13.6, 13.48, 13.54)* Acetazolamide-responsive hereditary paroxymal cerebellar ataxia - APCA (7.9, 7.10, 13.6, 13.48, 13.54)* Spinocerebellar ataxia 6 - SCA6 (7.9, 7.10, 13.6, 13.48, 13.54)* Cerebellar ataxia, pure - CACNA1A (7.9, 7.10, 13.6, 13.48, 13.54) |