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Wednesday, December 9th, 2009

Mutated Gene Linked to Epilepsy and Intellectual Disabilities in Women

May 12, 2008 by Kristina Chew, PhD  
Filed under Health

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 …read more


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