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.
CBD "Believe" trial
There has been widespread community interest in using cannabidiol (CBD), a non-psychoactive compound found in cannabis, as an anti-epileptic medication.
Current studies have suggested CBD is an effective treatment option for developmental and epileptic encephalopathies. Professor Lynette Sadleir and Shayma Ali (PhD student), along with a larger international team, are working with Zynerba Pharmaceuticals™ conducting a year-long clinical trial using a gel formulation of CBD which is rubbed onto the skin.
The aim is to assess the long-term safety, tolerability, and effectiveness of CBD for children and adolescents with epileptic encephalopathies.