Mutated Gene Linked to Epilepsy and Intellectual Disabilities in Women

Researchers at Adelaide’s Women’s & Children’s Hospital and the University of Adelaide, Australia, have found that a mutant gene causes epilepsy and intellectual disabilities specific to women. As noted in Science Daily, the study links a “large family of genes known as protocadherins with a condition known as ‘epilepsy and mental retardation limited to females’ (EFMR).” EFMR is described as “relatively uncommon” and also hereditary,

…….with successive generations of women affected. In just one of seven families studied across the world, 23 women were affected by the disorder across five generations. This discovery will now enable such families to benefit from genetic counselling, including screening for the genetic mutation at pregnancy.

“This is the first time this type of gene has been found to be involved in epilepsy,” Dr [Leanne] Dibbens [one of the leaders of the study] says.

“One of the most important discoveries we’ve made is that women in families affected by EFMR carry both a ‘good’ gene and a ‘bad’ (mutated) gene, while the men carry only the bad gene. For some reason, the men remain unaffected by the condition,” Dr Dibbens says.

“We suspect this may have something to do with the male Y chromosome, but more research will be needed to find out exactly how or why.”

Of course, epilepsy and intellectual disabilities are not found in all autistic women, but these are among the co-morbid conditions that can occur with autism. Dibbens will be continuing her research by studying “larger groups of patients with epilepsy, intellectual disability, and a number of the females affected in these families have autistic features and obsessive features,” as she notes in a May 12th interview with The World Today.

The study is published in Nature Genetics.