Epileptic Encephalopathies are rare severe disorders where infants or children have multiple different types of seizures that are extremely difficult to control.  They are usually accompanied by slowing in development, sometimes with loss of skills.

 

We are assembling a large group of patients with epileptic encephalopathies, with ongoing recruitment and clinical assessment. To date, this has led to the identification of many novel genes for different forms of epileptic encephalopathies, however the cause remains unknown in about 50% of these patients.

 

Through detailed analysis of clinical and genetic features we have described new epileptic encephalopathy syndromes and analysed the relationship between specific types of epilepsy and causative genes. More answers regarding the causes and therapies for epileptic encephalopathies will emerge with our ongoing work.