John Libbey Eurotext

Progressive myoclonic epilepsy: myoclonic epilepsy and ataxia due to KCNC1 mutation (MEAK): a case report and review of the literature Volume 22, numéro 5, October 2020


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1 University of Pittsburgh, Neurology, Pittsburgh, Pennsylvania, USA
2 Thomas Jefferson University, Department of Neurology, Jefferson Comprehensive Epilepsy Center, Philadelphia, Pennsylvania, USA
* Correspondence: Niravkumar Barot 3471 Fifth Avenue, Suite 810, Pittsburgh, PA 15213, USA

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.