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Researchers identify mutation that causes epilepsy

Researchers identify mutation that causes epilepsy
24th February 2012

Researchers have identified a mutation in a sodium channel protein that may be the cause of a severe form of epilepsy.

A study at the University of Arizona has applied Next Generation Genome Sequencing to unveil the entire DNA of a patient who died from a sudden epileptic incident.

This process revealed that a previously unknown mutation in a gene coding for the sodium protein channel was to blame for the epileptic event.
It is hoped that the study will bring peace of mind to patients and the family of those with epilepsy, who have previously been unsure of the cause.

Professor Michael Hammer, leader of the study, explained: "If you have a small child with severe epilepsy, not knowing what is causing it is a big burden to carry for the family.

"It leaves a lot of open questions and sometimes even feelings of guilt."

Another study to identify the cause of severe epilepsy is currently taking place at Helsinki University Central Hospital. It explores the electric activity of both the surface and the deep brain structures during epileptic seizures.

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