Single mutation of the gene responsible for the catastrophe of epilepsy

Catastrophic epilepsy - is characterized by severe muscle cramps, persistent seizures, mental retardation, autism and sometimes - the results of a mutation in a single gene, said Baylor College of Medicine, the researchers in a report in the latest edition of the Journal of Neuroscience.

BCM Department of Neurology of the team included lack of a mouse, the development of a mouse model of disease, help researchers to discover effective treatments and new approaches to curing the disease, said Dr Noebel Jeffrey, professor of neurology, neuroscience and molecular and human genetics and director of BCM Blue Bird Circle development of neuro-biology genetics BCM Laboratory, where research was conducted.

"While many genes underlie different forms of childhood epilepsy have been over the last ten years, most of the troubles of" pure "crises," said Noebel. Why do some children have a number of complex diseases early engine with large seizures in childhood, followed by cognitive and developmental disorders such as autism remains a mystery until the discovery by the BCM, a mutation in one gene explains the four characteristics of catastrophic epilepsy.

A gene aristaless under Homeobox ARX or a triple repeat mutation, which means that the gene (in this case, GCG) is repeated several times in the gene. If researchers duplicated in this particular context, the mutation in mice specially high, the animals have spasms engine comparable to human babies. Shooting their flow brain have shown that different types of measures, including epilepsy and seizures. She was also learning and was four times higher than avoid contacts with other normal mice as their colleagues. This behavior is similar to that of children with autism or other diseases in the same frequencies.

"The new model is an important instrument to promote a cure for the disease," said Noebel.

"Mutation of the ARX gene was previously reported to influence Inter neurons, a class of cells, the electrical activity in the brain," said Dr. Maureen Price, the lead author and professor of neurology at BCM.

When the researchers to assess the brains of adult mice with the mutant gene, they found that the special class of Inter never neurons in specific brain regions.

"Further study is possible, the application to locate in the brain, is often the behavior of autism," said Price.

Two members of the research team - Dr. James Frost, professor of neurology at BCM, the concept of special mice, and Dr. Richard Hrachovy even a professor of neurology at BCM - are pioneers in the exploration of human infantile spasms.

There is currently no evidence of healing of children to this specific point, epilepsy, "said Noebel." We now have a new benchmark in the mechanism and studies have already with a new class of drugs which are not investigated for this disorder. "The new drug control is carried out by the private foundation of persons against childhood epilepsy.