Pathogenic mutations in CACNA1A lead to autosomal dominant episodic disorders, including episodic ataxia type 2 (EA2), spinocerebellar ataxia type 6 (SCA6), FHM1, and developmental and epileptic encephalopathy 42.[4] FHM1 is characterized by the occurrence of motor deficits during the aura. The gene discussed is CACNA1A; the disease is developmental and epileptic encephalopathy, 42.