Touching Lives - February 2008
Tackling epilepsy and episodic ataxia
In order to live a normal life medication is often a necessity. But in some cases even this is not sufficient to assist one to live a seizure-free life and the sideeffects of this medication may cause additional health problems. Seizures can hamper one’s daily life causing disruption to education, damaging employment prospects not to mention a loss of personal freedom.
A related disorder called episodic ataxia is an inherited condition. It begins in childhood and consists of attacks of dizziness, unsteadiness, clumsiness and slurred speech which can last for hours. This is associated with a faulty calcium channel gene - the channel is like a pore that allows the movement of calcium in and out of cells. Children with epilepsy are often clumsy and this is usually blamed on the side-effects of the drugs but it is thought that they may also be suffering from episodic ataxia.
A study funded by Action Medical Research and conducted by one of the Charity’s Research Training Fellows, Dr Tracey Graves from the Institute of Neurology at University College London, investigated the calcium channel gene in patients with combined epilepsy and episodic ataxia. She has identified five novel mutations in the gene in these patients.This research helps clarify how epilepsy and episodic ataxia occur together and that the condition has a known cause.
This could help more patients receive a definitive diagnosis and hence more appropriate treatment in the future. Further research into the calcium channel gene may develop our understanding of these conditions and help lead to more successful drug treatment.