Progressive myoclonic epilepsy: myoclonic epilepsy and ataxia due to <i>KCNC1</i> mutation (MEAK): a case report and review of the literature
Niravkumar Barot, Megan Margiotta, Maromi Nei, Christopher Skidmore
Abstract
Progressive myoclonic epilepsy (PME) is characterized by prominent myoclonus and generalized or focal seizures. A recently described novel KCNC1 mutation is associated with a specific phenotype of progressive myoclonic epilepsy, which has been defined as myoclonic epilepsy and ataxia due to potassium channel mutation (MEAK). Our case illustrates a typical presentation of this disease and the potential for misdiagnosis as idiopathic generalized epilepsy during the early phase of the disease. Unique findings that may suggest an alternative diagnosis are a progressive myoclonus, prominent ataxia/dysmetria on examination, and abnormally high amplitude in the sensory evoked potential recording. We also report a brief review of the existing literature on MEAK. Early and accurate diagnosis with genetic testing may significantly help in counseling patients and families.