Juvenile myoclonic epilepsy: Under-appreciated and under-diagnosed

Abstract

Juvenile myoclonic epilepsy (JME) is a hereditary, idiopathic, generalised epilepsy and is found in 5%-11% of patients with epilepsy. It is characterised by myodonic jerks, occasional generalised tonic-clonic seizures, and sometimes absence seizures. JME continues to be under-appreciated and under-diagnosed. Accurate diagnosis is important as it usually responds well to treatment with appropriate anticonvulsants and misdiagnosis often results in unnecessary morbidity. In addition lifelong therapy is usually indicated as the natural history is one of relapse off treatment, even after a prolonged seizure-free period.