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WEDNESDAY, July 8 (HealthDay News) -- A mutation in a single gene causes catastrophic epilepsy, U.S. scientists say. And that finding, they say, could lead to treatments or a cure for the disorder.
People with catastrophic epilepsy suffer severe muscle spasms, persistent seizures, mental retardation and sometimes autism.
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"At present, there is no proven cure to offer children with this specific epilepsy," Dr. Jeffrey Noebels, a professor of neurology, neuroscience and molecular and human genetics at Baylor College of Medicine in Houston, said in a news release from the college. "We now have new clues into the mechanism and have already initiated studies with a new class of drugs not previously explored for this disorder."
Noebels and his team found that a mutation on a gene called Aristaless-related homeobox (ARX) caused catastrophic epilepsy-like symptoms in mice, including muscle spasms, seizures, learning disabilities and reduced social interaction.
When the researchers examined the brains of mice with the mutated gene, they found that interneurons -- a class of cells that inhibit electrical activity in the brain -- had failed to develop in specific areas of the brain.
Mice with the mutation will be "an essential tool to find a cure for the disorder," said Noebels, who is also director of the Blue Bird Circle Developmental Neurogenetics Laboratory at Baylor.
The study is in the July 8 issue of the Journal of Neuroscience.
More information
The Epilepsy Foundation has more about epilepsy.
SOURCE: Baylor College of Medicine, news release, July 7, 2009
-- Robert Preidt
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