Refractory Juvenile Myoclonic Epilepsy Cohort (ReJuMEC)

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Juvenile myoclonic epilepsy (JME) is a type of epilepsy which is usually diagnosed in the teenage years. There are an estimated 45,000 people with JME in the UK. People with JME often have three different types of seizures, brief muscle jerks usually of the upper limbs (myoclonus), convulsions, and short periods of impaired awareness (absence seizures). JME is a lifelong disorder which requires treatment with antiepileptic drugs but this is only effective in 70% of people. In the remainder, one or more of the seizure types persists despite drug treatment and this can lead to reduced educational attainment and employment opportunities, social stigma, an inability to drive, difficulty in forming relationships, and a dependence on others for daily care. It is estimated that one in every two hundred people with uncontrolled epilepsy will die as a result of their seizures. Treatment options for people with JME are limited and new drugs are not usually developed for this condition. Most are tested for other types of epilepsy and only become available for JME by chance. This reduces the likelihood that they will be effective. This project will bring together a group of epilepsy experts from across the UK in order to identify 200 people with drug resistant JME from out-patient clinics. The clinical records of these patients will be reviewed in detail and they will undergo further tests aimed at better understanding their disease. All information will be stored on a secure, centralised database at the University of Liverpool and will be used by UK researchers to investigate the causes and consequences of JME. As a result, patients will have the opportunity to take part in other research projects and to become involved in drug trials of new epilepsy medications. It is anticipated that the availability of a large group of people with well-defined JME will encourage the pharmaceutical industry to develop new treatments specifically for this type of epilepsy. The ultimate aim of this project is to raise awareness of JME, to improve understanding of its causes, and to find new treatments for this common and often debilitating epilepsy which increase the likelihood that people with JME can live a life free from seizures.