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Research Grant Award 2012

Research Grant 2012

Genetic hetrogeneity of Dravet syndrome: the pathological roles of SCN2A, SCN1B and GABRG2 in Dravet syndrome patients negative for SCN1A mutations

Professor Mark Rees, Dr. Seo-Kyung Chung, Dr. Rhys Thomas and Dr. Sameer Zuberi

Dravet Syndrome UK are delighted to be funding this study, costing £29,950, which will take place over 2 years and bring together The Welsh Epilepsy Research Network and The Royal Hospital for Sick Children in Glasgow. The research programme will screen 80 patients who have tested negative for the SCN1A gene, yet still have a clinical diagnosis of Dravet syndrome.

These 80 patients will all have been clinically assessed with a definitive diagnosis of Dravet syndrome by Dr Zuberi’s team and will go on to be tested for the rarer gene causes; SCN2A, SCN1B, GabRG2 and PCDH19.

The 80 patients have already been identified and in all cases where pathogenic mutations are found the referring clinician, in conjunction with Dr Zuberi, will be informed to communicate the results to the parents/guardians. Regional consultants will then be able to access localised genetic counselling teams to begin the information dissemination process with the families involved.

Where mutations are found parents will be subsequently tested to discover whether the mutation has arisen de-novo.

The prediction is that the results will help explain more of the biological cause of seizures, learning problems and ataxia in Dravet syndrome and will also help doctors provide parents with a greater degree of certainty when giving both the diagnosis and prognosis at an early age.