Pathogenic variants in the CACNA1A gene cause episodic ataxia type 2, familial hemiplegic migraine 1, and spinocerebellar ataxia 6. A single pathogenic variant in one copy of the CACNA1A gene has been reported previously in patients with different migraine phenotypes as well as in patients with episodic ataxia and epilepsy. Recently, the c.3043G>A (p.Glu1015Lys) variant was identified in Indiana Amish patients with isolated epilepsy and migraine. This targeted test will specifically analyze the c.3043G>A variant.
1 - 2 weeks