Developmental and epileptic encephalopathies are rare severe disorders in which 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 have assembled a large cohort of patients with epileptic encephalopathies, with ongoing recruitment and clinical assessment.  This has led to the identification of many novel genes for different forms of epileptic encephalopathies, however the cause in >50% of these patients remains unknown. 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 the causative genes. More answers regarding the causes and therapies for epileptic encephalopathies will emerge with our ongoing work.

Studying families with a large number of people who have had a seizure at some time in their lives has been a very successful way of finding epilepsy genes. While these families give us the best chance of finding these genes, they are quite rare. We also study smaller families where there are only a few people who have had seizures, and also individuals with no family history at all.

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In all genetic epilepsy studies it is very important to determine exactly who has epilepsy, the type of epilepsy each person has and whether everyone in the family has similar or different types of epilepsy or seizures.  This involves conducting a detailed questionnaire with as many people from the family as possible and may sometimes involve further testing such as an EEG (brainwave reading) or MRI (brain imaging) scan. We then request a blood sample from the participants, which is used to extract DNA (genetic material). There are many ways the DNA can be analysed - sometimes all the samples from a family will be studied together to track down the responsible gene, sometimes a single DNA sample can be studied on its own and sometimes the sample might be studied together with samples from many other people with the same type of epilepsy. Discovery of new genes can take many years of detailed study.

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Twins do not have a greater chance of having epilepsy than the general population, but twins can provide special insights into the causes of epilepsy. Because identical twins share the same genes, and all twins typically share the same environment, studying twins where one or both have seizures or epilepsy can help us distinguish genetic causes of epilepsy from other causes.