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Gene Causing Epilepsy Identified
This breakthrough discovery has also shown that despite men carrying the 'bad' gene, it is only the women who get affected.
Led by Dr Leanne Dibbens and Associate Professor Jozef Gecz from the Department of Genetic Medicine, Women's and Children's Hospital, and the Discipline of Paediatrics at the University of Adelaide, the study has, for the first time, found a link between a large family of genes known as protocadherins with a condition known as "epilepsy and mental retardation limited to females" (EFMR).
Though uncommon, the disorder is mainly hereditary and affects successive generations of women.
The study examined seven families in Australia, the United States, Israel and Ireland and found 23 women to be affected by the disorder across five generations.
And the new discovery will help these families through 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. 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. 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," Nature quoted Dibbens, as saying.
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 | Quiz on Fits Fits or seizures could happen due to a number of reasons. Not all fits qualify to being labeled as epilepsy. Fits manifest in various forms. Test your knowledge on fits by taking this quiz. 
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