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 […]
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 […]
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 […]
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 […]
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 […]
Scientists from the University of Utah, USA, under the leadership of doctor of philosophy Aaron Quinlan has conducted a new study that is associated with the occurrence of early infantile epileptic encephalopathy . These seizures occur in the first months of a child’s life,and late diagnosis of the disease and improper treatment can lead to […]
