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Pair of genes linked to severe childhood epilepsy

19 August 2013
Appeared in BioNews 718

Two genetic variants have been pinpointed by researchers as causing two of the most severe forms of childhood epilepsy.

Although any treatments built on these findings would be decades away if they arrive at all, the genes in question feed into relatively discrete, specialised biological pathways which are often more promising as viable drug targets.

'More than a third of epilepsy patients are not treatable with any medication, so the idea of finding specific drug targets, instead of a drug that just bathes the brain and may cause problems with normal brain function, is very appealing', said Professor Daniel Lowenstein of the University of California, San Francisco, the co-leader of the Epi4k project that led to the research.

The study, published in Nature, focused on two forms of severe childhood epilepsy, Lennox-Gastaut Syndrome and infantile spasms, where patients often have other neurological conditions like autism or cognitive disability.

The scientists were particularly interested in the influence of de novo gene mutations – where the central genetic defect is not inherited from either patient but occurs spontaneously in the womb – and compared the DNA of the 264 children selected with that of their parents.

As well as confirming genes that were already associated with severe childhood epilepsy, the research two genes for the first time. One of the genes, GABRB3, is involved in the rare neurological disorder Angelman Syndrome, which raises the question of whether therapy for Angelman's patients might be of benefit.

The other gene, ALG13, is involved in putting sugar on proteins, which, the researchers say 'points to a new way of thinking about the causes of and treatment for epilepsy'.

Professor Lowenstein said that of the gene mutations identified or confirmed, 'many affect molecules that are involved in a relatively limited number of cellular pathways. This suggests that it may be sufficient to target therapies at a limited set of pathways rather than every mutated protein in every patient'.

Speaking to GEN News, Dr Katrina Gwinn of the National Institute of Neurological Disorders and Stroke in the USA, who was not involved in the study, said the pathways research was a 'tremendously interesting part of this paper. The study used an unbiased approach to identify and confirm biological pathways that may be involved in severe forms of epilepsy. These pathways may contain new therapeutic targets that have yet to be tested'.

Childhood Epilepsy Tied to Mutations in Unexpected Genes
Genetic Engineering and Biotechnology News |  11 August 2013
De novo mutations in epileptic encephalopathies
Nature |  11 August 2013
Global team identifies new genes behind severe childhood epilepsy
EurekAlert! (press release) |  11 August 2013
Researchers discover 2 new genetic mutations linked to childhood epilepsy
Fox News |  12 August 2013
Researchers find new epilepsy genes, hope treatments will follow
CBS News |  12 August 2013
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