The epileptic encephalopathies are the most severe group of epilepsies.
Mortality in children with severe epilepsy is 25% by 20 years of age.
To investigate the underlying genetic aetiologies of these devastating epilepsies, it is essential to define their clinical features and understand which features are common or different for the varying syndromes.
Epilepsy gene discovery in these syndromes is important for providing accurate prognostic information, optimising treatment, reducing invasive investigations, and is the first step towards the development of targeted therapies for seizures.
In this research project, each child's complex clinical phenotype is classified. The DNA from children with epileptic encephalopathies and their parents undergoes a screen of all known and some candidate epileptic encephalopathy genes. In children where no genetic cause is identified from this screen we use other molecular genetics techniques to make novel genetic discoveries.