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Epilepsy is a chronic disorder of the brain affecting an estimated 50 million people globally. [1, 2] The consequences of epilepsy are devastating, and the disease has far reaching consequences for those affected[1, 2], and on average people with epilepsy live 11-12 years shorter than people without epilepsy.[3]Obviously, these findings call for research into the causes of epilepsy – not least into unexplored areas such as underlying causes of frequent forms of epilepsy such as “non-lesional focal epilepsy”. 

We will use a unique new method that allows us to study somatic mutations in epilepsy. Somatic mutations are present only in subset of the cells in the body – for example in the brain. Using this new method, we can study somatic mutations derived from cells in the brain by examining cerebrospinal fluid from patients with ”non-lesional focal epilepsy”.

At this stage, we have already confirmed that we technically master this method and have produced preliminary results including cell free DNA from cerebrospinal fluid of epilepsy patients.This unique study will assess the potential contribution of somatic mutations in epilepsy related genes to “non-lesional focal epilepsy” and identify underlying disease mechanisms and thus new targets for prevention and treatment for epilepsy. 

References1. Global, regional, and national burden of epilepsy, 1990-2016. Lancet Neurol. 2019;18(4):357-75.2. WHO. Neurological disorders: public health challenges. Geneva: 2006.3. Dreier JW, Laursen TM, Tomson T, Plana-Ripoll O, Christensen J. Cause-specific mortality and life years lost in people with epilepsy. Brain. 202

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