Category: "Genetic sequencing"

Genetic study of epilepsy points to potential new therapies

Genetic study of epilepsy points to potential new therapies

The largest study of its kind, led by international researchers including scientists at RCSI (Royal College of Surgeons in Ireland), has discovered 11 new genes associated with epilepsy.   The research is published in today’s issue of Nature Communications. It greatly advances knowledge of the underlying biological causes of epilepsy and may inform the development of […]

Scientists uncover how rare gene mutation affects brain development and memory

Scientists uncover how rare gene mutation affects brain development and memory

Researchers from the University of California, Irvine School of Medicine, have found that a rare gene mutation alters brain development in mice, impairing memory and disrupting the communication between nerve cells. They also show memory problems could be improved by transplanting a specific type of nerve cell into the brain. The findings were published today […]

New causative gene found in severe childhood epilepsy

New causative gene found in severe childhood epilepsy

A large international research team has discovered a new genetic cause for a severe, difficult-to-treat childhood epilepsy syndrome. Spontaneous mutations in one gene disrupt the flow of calcium in brain cells, resulting in epileptic overactivity. The team’s research in patients also found clues to potential medical treatments for the rare condition. “Even though variants in […]

Research reveals new insights into severe childhood epilepsy

Research reveals new insights into severe childhood epilepsy

Genetic research reveals new insights into severe childhood epilepsy   In a new study on children with severe forms of epilepsy, researchers have found the genetic copying mistake that causes the severe epilepsy in children can be found in their parents who do not have epilepsy.   “The research findings are important for reproductive counselling […]

Detecting mosaic variation in parents improves genetic counseling

Detecting mosaic variation in parents improves genetic counseling

Mosaic variations in the cells of a parent may explain why childhood epilepsy strikes twice in some families   Advances in genetic testing offer new insights to parents who have a child with a rare but serious form of epilepsy, epileptic encephalopathy (EE), found in one of about every 2,000 births and characterized by developmental […]

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