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First Gene For Common Childhood Epilepsy

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1First Gene For Common Childhood Epilepsy Empty First Gene For Common Childhood Epilepsy on Wed Sep 30, 2009 5:35 pm


An international group of scientists, led by a team at the Columbia University Medical Centre, has found the first gene linked to the mostcommon type of childhood epilepsy, rolandic epilepsy (RE).

REd evelops between the ages of 3 and 12 years. Seizures originate fromthe rolandic area of the brain, which controls body movement, andusually start in the morning just after the child wakes up. There istypically tingling and loss of movement on one side of the face andspeech is often affected. The seizures stop of their own accord afterseveral minutes, and most children grow out of the disorder byadolescence.

The researchers (above) examined the genesof 38 families, in which one or more members were affected by RE. Usingadvanced analysis techniques, they found a region on a specific chromosomethat was linked to RE. The team then compared this region in peoplewith RE, to a control group who didn't have the condition (255 peoplein total). In this way they managed to pinpoint the culprit gene, whichis known as ELP4.

When the team's Canadian members repeated the experiment with a different set of families and controls, they got the same results.

The findings now need to be replicated by researchers who are not in theinternational team described (to exclude bias); however these twoindependent experiments provide strong evidence that ELP4 is linked to RE.

ELP4 has never beenlinked to a human disease before, but is related to a group of genesthat have recently been associated with other common forms of epilepsy.These genes appear to influence the organization of brain circuits.

The discovery of genes such as ELP4 has changed the way in which epilepsy is viewed. Whereas it was previously thought be caused by a fault inthe brain's ion channels, it is now believed to stem from neuronalconnections made during development.

Childrenwith other conditions, such as attention deficit and hyperactivitydisorder (ADHD), have a similar pattern of brain activity as those withRE. It is therefore possible that ELP4 is the faulty gene in all thesedisorders, which might explain why children with epilepsy often havelearning and behavioural problems.

These findings are very exciting, not only for the understanding of epilepsy, but of several other neurological conditions. The next step is to find out precisely how the ELP4 gene affects brainwave activity. Once this has beenestablished, interventions that treat a spectrum of disorders could potentially be developed

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