Rare genetic variants associated with epilepsy discovered in
For the first time, scientists have mapped out the genes associated with epilepsy. The study is one of the largest of its kind to look into the genetic make-up of people with epilepsy. The research, which was conducted by scientists from Austin Health and the University of Melbourne was published in the latest issue of the journal American Journal of Human Genetics.

The team of researchers included patients from different nations and included around 18000 persons. Professor Sam Berkovic, Director of Epilepsy with Austin Health and Laureate Professor with the University of Melbourne explained that severe forms of epilepsy seemed to have a genetic basis and this study shows that even less severe forms of epilepsy carried an association with genes.

He added, “This research is important because the more we understand the genes that are linked to epilepsy, the better we can tailor treatments to reduce the symptoms and let patients live more active lives.” Three types were noted among the patients, “severe developmental and epileptic encephalopathies (DEEs), genetic generalized epilepsy (GGE), and non-acquired focal epilepsy (NAFE).”

The strongest association was noted with genetic deletions and variants with DEE and least strong association was noted with NAFE. In all three classes of epilepsy, the team found that there was a genetic defect in the genes encoding for the GABAA receptors.

In DEEs and GGEs, there was a higher risk of these defects, they wrote. The team writes that the lead genetic variants seen with the different types of epilepsy were, “CACNA1G, EEF1A2, and GABRG2 for GGE and LGI1, TRIM3, and GABRG2 for NAFE.”

Source: https://pxmd.co/m9RlW
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