According to US scientists, mutation in a single gene causes catastrophic epilepsy and the findings could lead to treatments or a cure for the disorder.
At present, there is no proven cure to offer children with this specific epilepsy, said Dr. Jeffrey Noebels, a professor of neurology, neuroscience and molecular and human genetics at Baylor College of Medicine in Houston. 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 Aristaless-related homeobox (ARX) gene mutation causes catastrophic epilepsy-like symptoms in mice, including muscle spasms, seizures, learning disabilities and reduced social interaction.
The researchers examined the brains of mice with the mutated gene and found that a class of cells called interneurons 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.