Category: "Genetic sequencing"

Single gene linked to host of abnormalities during neurodevelopment

Single gene linked to host of abnormalities during neurodevelopment

Yale researchers have shown that mutations of a gene associated with autism, schizophrenia, bipolar disorder, and epilepsy cause some of the same structural and behavioral abnormalities that characterize those neurodevelopmental disorders, they report March 5 in the journal Cell Reports. Whole-genome sequencing has shown that mutations of the TRIO gene, which plays a crucial role in shaping brain […]

Which Epilepsy Panel is Most Cost-Effective for Genetic Testing?

Which Epilepsy Panel is Most Cost-Effective for Genetic Testing?

A cost-effective analysis has found that an epilepsy panel (EP) with deletion/duplication testing as well as whole-exome sequencing (WES) represent the most cost-effective genetic tests for epilepsy, particularly in comparison with chromosomal microarray (CMA). Results of the analysis were recently published in Neurology. In the meta-analysis, researchers included 20 studies comprising patients with epilepsy of unknown etiology. Studies […]

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 […]

Single gene linked to host of abnormalities during neurodevelopment

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 […]

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