A potential new tool for the diagnosis and treatment of childhood epilepsy

Grant round winners 2013

In recent years more than 70 genes have been linked to childhood epilepsies, and the search is still ongoing. Autoimmune conditions, in which the body’s immune system produces antibodies against the brain, have also been identified as potential causes of epilepsy and these are treatable. It is not yet known how common these genetic- and immune-mediated epilepsies are in childhood, or what proportion of epilepsies that are thought to be idiopathic (of unknown cause) in fact fall into these categories.

Testing children with epilepsy for relevant genes/antibodies could provide this information; however it would be of little value alone. It would be more beneficial if particular genes/antibodies could be linked to specific outcomes (e.g. degree of seizure control, cognitive development, behaviour and quality of life), and to an optimal treatment plan (drugs/a special diet/ immunotherapy/a combination of these). If this were possible, testing for genes/antibodies as part of diagnosis would help neurologists prescribe the most effective treatment(s) as early as possible (thus reducing the need for unnecessary investigations) and improve outcomes.

Dr Sameer Zuberi, at the Royal Hospital for Sick Children, in Glasgow and collaborators throughout Scotland and in Oxford, have been awarded £149,481, over 36 months, for a project entitled Population based genetic & autoimmune determinants of childhood epilepsy, in which they will attempt to make these important links.

During the study, participating centres will recruit children in Scotland aged three years and under, who have new onset idiopathic epilepsy. Blood samples will then be taken from each participant and sent to the Glasgow Epilepsy Genetics service and Oxford Neuroimmunology group, where they will be analysed for all 70 epilepsy-related genes and all known epilepsy-related antibodies. Children with a positive result will be registered onto an online database by research nurses, who will capture detailed information about their seizure type, seizure frequency, medications, comorbidities, blood test results and family history.

Two months after registration, the children’s parents will be sent a series of validated questionnaires, looking at factors such as their child’s quality of life and development, and how they themselves are coping. One year after registration, the parents will be asked to repeat the questionnaires, in order to find out whether any of these outcomes have changed.

Once their data have been analysed, the researchers hope to see similarities between people who have the same epilepsy-related genes/antibodies, in terms of their outcomes and treatment responses. They also hope to be able to see whether one therapy is associated with a better outcome than another, for a particular type of epilepsy.

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