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Latest research
Genetic hole on chromosome 16
Seven missing genes on chromosome 16 are providing a unique insight into the way genetic factors contribute to the development of epilepsy. Professor Sanjay Sisodiya, head of genetics at Epilepsy Society, explains how this breakthrough discovery could shape our understanding of the condition and eventually lead to much-needed new treatments.
Better outcome for people with Dravet syndrome
New research has highlighted the positive impact that a correct diagnosis of Dravet syndrome can have on adults with the condition. Dravet syndrome is a refractory form of epilepsy which usually appears during the first year of life with frequent fever-related febrile seizures and increasing cognitive impairment. It is most usually caused by a mutation or deletion of the gene SCN1A. But until recently little has been known of the long-term development of Dravet syndrome in adults. A recent study led by Epilepsy Society’s head of genetics Professor Sanjay Sisodiya, has thrown new light on the development of the condition in adult life and the way it can be managed.
Researchers show how our genetic make-up can affect our response to treatment
New medical research has discovered a genetic link between a common epilepsy medication, carbamazepine, and an increased risk to allergic reactions. An international collaboration investigating the genetics of epilepsy, which includes researchers from Epilepsy Society, examined 65 patients who suffered adverse reactions to the medication and compared their DNA to nearly 4,000 people.
Epilepsy, medication and visual problems
A sophisticated diagnostic tool which images the back of the eye is throwing new light on visual problems associated with epilepsy and medication
Research into risk from SUDEP
Genetic research may provide insights into sudden unexpected death in epilepsy (SUDEP) by identifying gene changes which might increase the risk in certain individuals. For example, it could be that certain people are more vulnerable to dying during a seizure because specific systems in the brain which should ‘dampen’ down the electrical activity fail to operate efficiently.
Ketogenic diet
Some children with epilepsy who do not respond well to traditional anti-epileptic drugs (AEDs) have benefited from the ketogenic diet. This is a high fat, low carbohydrate, protein controlled diet that has been used since the 1920s for the treatment of epilepsy. In the summer of 2012 our researchers will begin a detailed DNA analysis of two groups of children – those for whom the ketogenic diet has worked, and those who have not responded to the diet. Our overall aim is to identify the genetic factors associated with a positive response to the ketogenic diet, as part of a wider investigation into the genetics of epilepsy and its treatment.
New epilepsy gene and individualised treatment
A key outcome for our research is to find the right drug at the right dosage for each individual from the point of diagnosis. Using a specific blood test - an array Comparative Genomic Hybridisation (aCGH) test - we hope to narrow down the field of genes that might cause epilepsy. This could help improve our understanding and treatment of the condition.
