This variant affects the gene CACNA1A, LOC126862864 (calcium voltage-gated channel subunit alpha1 A| MED14-independent group 3 enhancer GRCh37_chr19:13371552-13372751) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Episodic ataxia type 2