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Findings in epilepsy gene in animals may guide treatment directions for infants
Date:6/1/2009

Researchers studying a difficult-to-treat form of childhood epilepsy called infantile spasms have developed a line of mice that experiences seizures with features closely resembling those occurring in patients with infantile seizures. These genetically engineered mice provide a new opportunity for scientists to test treatments that may benefit children.

Approximately one out of every 100 infants has a seizure. Many of them go on to have epilepsycharacterized by recurrent seizures. One obstacle to developing better therapies for children has been the lack of a good animal model," said study leader Jeffrey A. Golden, M.D., pathologist-in-chief at The Children's Hospital of Philadelphia.

Golden's team described a new mouse model for infantile spasms on May 12 in an online study in the journal Brain.

Infantile spasms are a type of seizure that occurs in an estimated 1 in 2000 to 1 in 6000 babies, with onset between ages three months and one year. During the seizures, infants have jerking movements and abnormal brain waves (seen on EEGs). "Children with infantile spasms often have a poor developmental outcome," said Golden. "Despite current treatment, many children with infantile spasms go on to develop lifelong epilepsy and varying degrees of mental retardation."

Finding a treatment for infantile spasms is crucial. "If we could better treat the infantile spasms, it is very possible some of these later problems could be prevented," added Golden.

Neurologists previously knew that mutations in Arx, the X-linked aristaless-related homeobox gene, were associated with abnormal brain development, neurocognitive problems, and with childhood neurological conditions involving seizures and spasms.

Golden's team developed genetically engineered mice in which the Arx gene was removed from interneurons, a type of brain cell that inhibits electrical firing in brain circuits. Removing the gene's role appears to have re
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Contact: John Ascenzi
Ascenzi@email.chop.edu
267-426-6055
Children's Hospital of Philadelphia
Source:Eurekalert

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