Epilepsy, Episodic Ataxia & Faulty Genes | Action Medical Research | Children's Charity

Epilepsy, Episodic Ataxia and faulty genes

This research was completed on 31 May 2007

Project LeaderDr Tracey Graves
LocationMolecular Neurosciences, Institute of Neurology, London
Grant awarded22 April 2005
Start date1 June 2005
End date31 May 2007
Grant amount£113,841.00
Grant codeRTF1150

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Epilepsy affects approximately 1% of the population and is a condition where a person has repeated fits or seizures. For some people, the condition can dominate their lives, affecting their education and employment prospects, as well as limiting their sense of personal freedom. A related disorder called episodic ataxia (EA2) is an inherited condition which begins in childhood. It consists of attacks of dizziness, unsteadiness, clumsiness and slurred speech which can last for hours. Children with epilepsy are often clumsy and this is usually blamed on drug side effects, but it is thought that many of these children also have EA2. Some rare types of epilepsy run in families and appear to be inherited, so identifying gene abnormalities in these families may help to explain how seizures are generated in all types of epilepsy. Genetic abnormalities in a pore that allows the movement of calcium in and out of cells is known to be associated with EA2 and migraine, and it may also have a role in epilepsy. Dr Graves intends to study the faulty calcium channel gene in patients with epilepsy and EA2. By assessing the influence of this gene on the risk of developing epilepsy, we may be better able to understand what causes the condition. In the short term, this will improve the diagnosis of this form of epilepsy and of EA2. This research may also improve understanding of other types of epilepsy, as most epilepsy is likely to be due to a combination of abnormal genes and environmental factors. The long term outcome could be the possibility of new drug treatments.

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