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Research Portfolio


A better understanding of juvenile myoclonic epilepsy


Grant round winners 2011

grant amount:

£98,230, over 24 months

lead investigator:

Dr Rhys Thomas



Swansea University


Juvenile myoclonic epilepsy (JME) is a common form of generalised epilepsy, which usually presents between the ages of 12 and 18 years and is characterised by myoclonus (involuntary twitching of a muscle/group of muscles) soon after wakening. Most people also experience tonic-clonic seizures and a significant number develop absence seizures.

JME has a strong genetic predisposition and four genes have been linked to the condition to date. However, prospective treatments that target these genes have not been as successful as hoped, suggesting that JME is more varied than originally thought and requires further investigation.


Dr Rhys Thomas, at Swansea University, and colleagues in Liverpool and London, have been awarded £98,230, over 24 months, to carry out a project entitled Next generation sequencing in endo-phenotyped juvenile myoclonic epilepsy, in which they will integrate with a large multi-centre trial into JME (managed at the University of Liverpool) that is already in progress. One of the theories they will explore is that JME is, in fact, a series of conditions, not just one.


The group will study the clinical characteristics of a large population of people with JME, to see if there are any differences between them and whether these might be inherited. At the end of this stage they plan to identify three distinct clinical descriptions of the condition (known as phenotypes). The team will then recruit people that match the three different phenotypes (eight for each, twenty-four in total) and examine their DNA in as much detail as possible, using state of the art technology. They will be looking not only for variations between the groups, but also for variations that are shared by the patients in each group, in order to identify prospective therapeutic targets.

Once a person develops JME, they have it for life, and so long-term treatment plans must be formulated. A good understanding of JME is vital, so that these can be as effective as possible. Dr Thomas and his colleagues hope that the identification of clinical subgroups will facilitate the development of better diagnostic techniques and therapies for JME, and allow clinicians to make more accurate prognoses for individual patients.

The Study