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Breakthrough in female-only epilepsy

An international team has made a breakthrough expected to help thousands of girls worldwide who suffer from a rare form of epilepsy.

The team successfully isolated the gene responsible for the female-only epileptic syndrome.

“We discovered that this condition is caused by an inherited mutation of the protocadherin 19 (PCDH19) gene, located on the X chromosome,” said professor Jozef Gecz, head of neurogenetics at the University of Adelaide and part of the research team. “Interestingly, both males and females can be born with this mutation but only females suffer from the symptoms of the condition.”

The research found girls with the incapacitating condition have one healthy X chromosome and one with the PCDH19 mutation, which drives the disorder. Gecz, who has worked extensively with families of girls with this condition, said this form of epilepsy affects about 1000 girls in Australia and 15,000 to 30,000 girls in the US.

He said girls born with the gene mutation often appear healthy at first, but when they reach about 8 months of age, they begin suffering debilitating and frequent seizures. They also commonly suffer from intellectual disability and autism and Gecz said research found sufferers are deficient in a hormone called allopregnanolone. He said the isolation of this hormone may lead to treatments.

“We know that hormones play a critical role in this condition because the seizures often stop once the girls reach puberty; however, the autism and intellectual disability remain,” Gecz said. “We expect that the longer we can delay the onset of seizures, the less the sufferer might be affected by the autism and intellectual disability.”

Marinus Pharmaceuticals, a US company, is now recruiting affected girls as part of the world’s first clinical trial to test the synthetic form of allopregnanolone – ganaxolone – as a possible therapy.

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