Juvenile myoclonic epilepsy refractory to treatment in a tertiary referral center

Juvenile myoclonic epilepsy (JME) is an epileptic syndrome often regarded as one in which seizures are relatively easy to control. Individuals with JME, however, often require lifelong therapy to remain seizure-free, and a few have refractory epilepsy. We ascertained a population with JME and characterized a subgroup with refractory epilepsy.

We audited and reviewed clinical records of individuals diagnosed with JME identified via a sample of 6600 individuals in a clinical database from a specialized epilepsy clinic at a tertiary referral center.

We identified 240 people with a diagnosis of JME (146 females), with a mean age at seizure onset of 14.2years (SD: 4.5), and a mean age at diagnosis of 15.6years (SD: 4.9). Clinical phenotypes seen were classic JME phenotype (88%), childhood absence epilepsy evolving into JME (6%), JME with adolescent absences (4%), and JME with astatic seizures (2%). More than a quarter (28%) had a family history of epilepsy. The most commonly used antiepileptic drug (AED) was sodium valproate in 78% of individuals, followed by levetiracetam (64%) and lamotrigine (55%). In the previous year, 47.5% were seizure-free. Using the International League against Epilepsy (ILAE) definitions and considering National Institute for Health and Care Excellence (NICE)-recommended AEDs for this syndrome, 121 individuals (50.4%) were identified as having refractory epilepsy.

Juvenile myoclonic epilepsy is often regarded as a benign epileptic syndrome, but in this setting, half of the individuals with JME have refractory epilepsy with only about a quarter of those seizure-free in the previous year. Despite some advances in the understanding of this syndrome, there is still much to do before we can offer all the best outcomes.