[Juvenile myoclonic epilepsy]
Marte Roa Syvertsen1, Rune Markhus, Kaja Kristine Selmer
1Nevrologisk avdeling, Drammen sykehus, Norway. marsyv@vestreviken.no
Insights
Juvenile myoclonic epilepsy (JME) is a common epilepsy syndrome in youth. Effective treatment with valproate and avoiding triggers like sleep deprivation can achieve seizure freedom in 80% of patients.
Area of Science:
- Neurology
- Epileptology
Background:
- Juvenile myoclonic epilepsy (JME) is a generalized epilepsy syndrome that begins in adolescence.
- Accurate diagnosis and management are crucial due to potential misdiagnosis and treatment challenges.
Purpose of the Study:
- To provide an updated review of the etiology, diagnosis, and treatment of JME.
- To highlight diagnostic difficulties and optimal therapeutic strategies.
Main Methods:
- A comprehensive literature review of original articles, meta-analyses, and reviews from PubMed.
- Inclusion of authors' clinical experience with JME patients.
Main Results:
- JME onset is in adolescence, characterized by myoclonias, generalized tonic-clonic seizures, and absences.
- Characteristic EEG findings include 4-6 Hz polyspike waves, though focal abnormalities can occur.
- Valproate treatment, alongside avoidance of seizure triggers (e.g., sleep deprivation), leads to seizure freedom in approximately 80% of patients.
Conclusions:
- JME diagnosis can be challenging due to potential focal epilepsy features in semiology and EEG.
- Misdiagnosis as focal epilepsy may lead to inappropriate antiepileptic drug choices, potentially worsening seizures.
Background:
Juvenile myoclonic epilepsy (JME) is a generalised epilepsy with seizure onset in youth. The aim of this review is to present updated knowledge about the etiology, diagnosis and treatment of JME.
Material And Method:
The review is based on a judicious selection of original English language articles, meta-analyses, and reviews found in PubMed, and the authors' own experience with the patient group.
Results:
Seizure onset occurs in adolescence. All have myoclonias, about 90 % have generalized tonic-clonic seizures, and one third have absences. Myoclonic jerks are frequently the debut symptom, while tonic-clonic seizures appear later on. Patients are particularly susceptible to seizures shortly after waking. It is important to ask specifically about myoclonias as most patients do not report jerks spontaneously. The electroencephalograms of 44-81 % of the patients show discharges of 4-6 Hz polyspike waves. Focal EEG abnormalities may be seen in about 30 %. When patients are treated with valproate and seizure-precipitating factors are avoided, especially sleep deprivation, about 80 % become seizure-free. Lamotrigine and levetiracetam are alternative therapies for women of childbearing age. Attempts to taper off the medication after several years of seizure freedom entail a high risk of seizure relapse.
Interpretation:
As there may be features of focal epilepsy in the seizure semiology and/or the EEGs, it may be difficult to diagnose JME. Thus, many patients are misdiagnosed as having a focal epilepsy and are given antiepileptic drugs that may aggravate the tendency to seizures.
Related Concept Videos
Epilepsy and Seizures: Overview
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
Epilepsy ll: Types
Seizures: Classification
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
Seizures ll: Types
Seizures l: Introduction
Antiepileptic Drugs: GABAergic Pathway Potentiators
The key GABA pathway potentiators used in epilepsy management are as follows.
Benzodiazepines are a well-known class of drugs used for their...


