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

sulted in overexcited brain cells and seizures in the mice. The seizures resembled human infantile spasms. Equally exciting to the researchers, these mice had another brain wave abnormality similar to that found in children with infantile spasms--an abnormal background EEG.

"This is the first genetic model of a developmental epilepsy, and even more importantly, it was generated by mutating the same gene that can be found mutated in humans with infantile spasms," said Golden. In an unexpected development, the researchers found that half of the female mice carrying the mutation also developed seizures. Because the mutation occurs on the X chromosome, it was expected that male mice would have seizures, which was true, and that all the females would be unaffected carriers, which was not the case.

This discovery prompted the researchers to take a closer look at human families with an infantile spasms patient. They found that the patients' mothers (14 women) had experienced normal development. But of the patients' nine other relativessisters, aunts and a cousinsix had neurological problems, including four with epilepsy. The neurological problems included varying degrees of mental retardation or other learning disabilities. These findings, said Golden, will immediately change the evaluation and testing of women with mental retardation and epilepsy, particularly in families with other affected individuals.

This new finding will also assist genetic counselors in advising parents who already have a child with an Arx mutation and are contemplating having another child.

Going forward, Golden said, this new animal model provides an important tool: an opportunity to begin testing drugs in the mice to identify potential treatments for children. "We can screen existing drugs to see if they are effective against this type of epilepsy," said Golden, adding that understanding the biological mechanism by which infantile spasms develop may also lead
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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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