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No abstract

Episodic ataxia type 2 (EA2) is a rare autosomal dominant disorder associated with mutations of the CACNA1A gene. 1 Because there is no curative therapy available, EA2 is typically managed symptomatically. First line treatment has typically been with acetazolamide. 2 Dalfampridine has also been noted to decrease the frequency and duration of ataxic attacks in patients ranging in age from adolescence through adulthood. 3 , 4 The efficacy and dosing of dalfampridine has not yet been studied in younger pediatric populations. The lack of published experience in younger children can and has led to these patients going without potentially safe and effective treatment. Thus, we describe an 8-year-old girl with EA2 and a confirmed CACNA1A gene mutation whose symptoms had been previously unrelieved by acetazolamide. She was subsequently trialed on dalfampridine and experienced symptomatic relief at a dose of 0.3 mg/kg.