Focal dystonia as an early symptom of CACNA1A mutation: case report and literature review.
Objective: We describe two cases, a father-daughter pair, of CACNA1A mutation with task specific dystonia as an early feature. The father otherwise had a phenotype…Phenotype and genotype variability of CACNA1A in a cohort of ataxia in Taiwan
Objective: To study the phenotype and genotype variability of CACNA1A in a cohort of ataxia. Background: CACNA1A gene encodes a voltage-dependent, P/Q type calcium channel…