In humans, mutations in CACNA1A are associated with channelopathies, such as spinocerebellar ataxia 6 and episodic ataxia type 2 [56] as well as with more prevalent conditions such as familial hemiplegic migraine, dystonia, epilepsy, myasthenia and even intermittent coma [57]. The gene discussed is CACNA1A; the disease is Dystonia.