CACNA1A and episodic ataxia type 2: Due to the type of mutations and their function (gain or loss), CACNA1A pathogenic variants have been associated with numerous neurological disorders, including Developmental and Epileptic Encephalopathy (DEE), episodic ataxia, type2 (EA2), familial hemiplegic migraine (FHM), familial hemiplegic migraine with progressive cerebellar, and spinocerebellar ataxia6 (SCA6).