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10 June 2014

New genetic link to common cause of epilepsy

An international team of researchers has discovered a genetic link to a common cause of epilepsy. According to research published this week in  the scientific research journal EMBO Reports, a genetic mutation in the gene KCC2 might be a risk factor for developing idiopathic generalised epilepsy.

The research has been welcomed by Epilepsy Society's lead geneticist Professor Sanjay Sisodiya. 'This is an important study on one gene, that contributes to a growing understanding of the link  between genetic changes and their final consequences in epilepsy, ' he said.

KCC2 maintains the correct levels of chloride ions in neurons, playing a major part in regulating excitation and inhibition of neurons.

In a study of 380 French Canadians living in Montreal and Quebec, researchers found a clear statistical association between KCC2  and severe idiopathic generalised epilepsy. The research was carried out by the Montreal Neurological Institute and Hospital (The Neuro) and leading institutions in the USA, France and the UK.

Professor Sisodiya continued: 'Studies like this and other similar work will increase our knowledge of the particular mechanisms of epilepsy in individual people - work which we are also developing at Epilepsy Society, aiming to personalise treatment in epilepsy.'

Read more about our genetic research at Epilepsy Society.