Grant round winners 2012

Infantile epileptic encephalopathies (IEEs) include a range of severe epilepsy syndromes, which usually present before the age of 12 months and are associated with intellectual impairment and seizures that are difficult to control. Evidence suggests that families rarely receive a proper explanation about the cause of their child’s IEE, and that even if a genetic abnormality is suspected (as it often is), the specific genes responsible are not known.

Professor Angus Clarke and colleagues, at Cardiff University, have recently been awarded £149,507, over 36 months, to carry out a project entitled ‘Identification of novel infantile epileptic encephalopathy genes by exomic sequencing‘, in which they hope to identify the genes that are associated with the IEEs and could potentially be tested for as part of diagnosis.

The group has already enlisted 20 people with an IEE and plans to recruit 30 more at the start of the study. Following recruitment, the researchers will obtain detailed medical information and DNA from each participant and both of their (IEE-free) parents. They will then examine the exomes (the protein-coding sections of the genetic code) of all of the DNA samples, and will be looking for new, disease-causing, genetic changes in the people with IEE (that are not present in their IEE-free parents). Finally, the team will check whether or not these genetic abnormalities are shared by other people with early-onset seizures (i.e. whether they are specific to IEEs or not).

A genetic test that is specific to IEEs would not only improve their diagnosis, but could potentially allow the unborn children of pregnant women who are at risk to be tested for them. Furthermore, knowledge of the genes responsible for IEEs will greatly improve our understanding of them, and this is essential for the development of new treatments. If successful, therefore, Professor Clarke’s project could have a significant impact on the diagnosis and management of these epilepsy syndromes.