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Juvenile myoclonic epilepsy

Author
Christian M Korff, MD
Section Editor
Douglas R Nordli, Jr, MD
Deputy Editor
April F Eichler, MD, MPH

INTRODUCTION

Juvenile myoclonic epilepsy (JME or Janz syndrome), previously ‘impulsive petit mal,’ is one of the most common generalized idiopathic epilepsies of childhood [1]. It typically occurs in otherwise healthy adolescents and is characterized by the triad of myoclonic jerks, generalized tonic-clonic seizures (GTCS), and absence seizures (also called petit mal). Seizures characteristically occur upon awakening or in association with sleep deprivation, and patients generally respond quickly and completely to standard antiseizure drugs. Seizure frequency often lessens in adulthood but most patients require life-long antiseizure drug therapy. The underlying cause of JME is not known and there are likely complex underlying genetic defects [1].

The epidemiology, pathophysiology, clinical features, diagnosis, and treatment of JME will be reviewed here. Other epileptic syndromes of childhood are reviewed separately. (See "Epilepsy syndromes in children" and "Childhood absence epilepsy" and "Benign focal epilepsies of childhood" and "Localization-related (focal) epilepsy: Causes and clinical features".)

EPIDEMIOLOGY

JME accounts for 25 to 30 percent of the idiopathic generalized epilepsies and up to 10 percent of all cases of epilepsy [2]. Based on a population risk of epilepsy of 1 percent by age 20, the incidence of JME is estimated to be 1 in 1000 to 2000 [3].

The gender ratio in JME is generally considered to be equal, but several studies have reported a female preponderance of up to 2.9:1 [4-6].

The mean age of onset is 15 years, with a range of 5 to 34 years [7-10]. The majority of patients are diagnosed between the ages of 12 and 18 years.

                   

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Literature review current through: Nov 2016. | This topic last updated: Wed May 18 00:00:00 GMT+00:00 2016.
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