Advancements in the research of genetics and brain imaging are revolutionizing the knowledge and care of epilepsy, which is one of the most common and serious neurological disorders. Epilepsy is a condition characterized by recurrent unpredictable seizures. Epileptic seizures vary from being nearly undetectable to brief and long periods of vigorous shaking. Epileptic “fits” or […]
Identifying the genetic cause of epilepsy using whole genome sequencing could lead to better disease management.
When discussing a diagnosis of epilepsy, advances in genetic testing are proving that it is indeed all about the details. Comprehensive genetic testing is making it possible to drill down into those details. When testing is based on whole genome sequencing (WGS) technology, it is possible to identify genetic changes, or variants, in the 370-plus […]
A team of researchers at Children’s Hospital of Philadelphia (CHOP) affiliated with the CHOP Epilepsy Neurogenetics Initiative (ENGIN) further bridged the gap between genomic information and clinical outcome data by systematically linking genetic information with electronic medical records, focusing on how genetic neurological disorders in children develop over time. The findings were published today in […]
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 […]