TY  - BOOK
AU  - Barot,Niravkumar
AU  -  Margiotta,Megan
AU  -  Nei,Maromi
AU  -  Skidmore,Christopher
TI  - Progressive myoclonic epilepsy: myoclonic epilepsy and ataxia due to KCNC1 mutation (MEAK): a case report and review of the literature
PY  - 2020///.
							
N1  - 59
N2  - 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
UR  - https://shs.cairn.info/revue-epileptic-disorders-2020-5-page-654?lang=en&redirect-ssocas=7080
ER  -