A previously well 8 month old girl presented to her local hospital with a prolonged 20 minute generalised seizure associated with a temperature. The family like so many others had never seen anything like this before and thought their daughter was going to die. She made a good recovery and after a couple of days went home. However she was admitted twice in the next couple of months with long seizures, once having to go into intensive care. The medical team sent genetic testing for a gene called SCN1A, which can be mutated in a severe childhood epilepsy called Dravet syndrome. The test came back positive. The diagnosis came as a shock for the family but it meant that their daughter did not have to go through many other invasive tests and that their doctors could choose specific medications that are known to be better for this type of epilepsy. Gene tests on her parents confirmed that this was a new gene change and not inherited meaning that the family could make informed decisions about having more children.
At another district hospital a 10 month old girl presented with a 20 minute seizure associated with temperature. Over the next few months she had two further seizures both requiring emergency medical treatment and admission to hospital. The medical team sent off the SCN1A test – after several weeks this came back negative. She had further seizures and a test for a gene called SLC2A1 was sent. Mutations in this gene cause a problem in transporting glucose from the blood into the brain leaving the brain deficient of energy and vulnerable to seizures. The test came back positive and allowed her doctors to prescribe a special ketogenic diet, which is the best treatment for this condition rather than anti-epileptic medications. Since going on the diet her seizures are controlled and her development is normal. Without this treatment the lack of energy to her brain would most likely result in progressive learning problems. As you can see from these two cases epilepsy in young children with different genetic causes and very different treatments may have very similar initial presentations.
Epilepsy Research UK has funded a 3-year study in Scotland to look at how new genetic testing technologies can improve our diagnosis and treatment of epilepsy. In the first such study worldwide all children in Scotland presenting with new onset epilepsy under the age of 3 years who do do not have a condition known to cause epilepsy will have an extensive panel of gene tests and testing for antibodies that are associated with epilepsy from one blood sample. These antibodies are produced by the body’s immune system and like gene changes are increasingly being recognised as potentially treatable causes of epileptic seizures. ERUK is committed to supported team working and the development of networks of professionals to improve epilepsy care through clinical research; this study demonstrates that commitment. All 21 centres in Scotland where children with epilepsy are seen for their first seizure are participating in the study through their links to the Scottish Paediatric Epilepsy Managed Clinical Network. The gene testing will be done in Glasgow and the immune testing is being done by a team at the University of Oxford. We expect this work will tell us how common these genetic and immune epilepsies are on a whole population basis, will help us make early diagnoses, save children having many other investigations and ensure they get the most appropriate treatment as early as possible. We also think it is very important that we understand how parents and doctors feel about these new ways of diagnosing causes for epilepsy. What concerns do families have about genetic testing and how does it make a difference to their child’s life? Parents, carers and doctors are helping us answer these questions by completing questionnaires around the time of diagnosis and a year later. ERUK has funded a study that has successfully brought together every paediatric centre in Scotland to improve the care of children with epilepsy.