Category: "Genetic sequencing"

Genetic Tests Prompt Therapy Adjustments in Epilepsy

Genetic Tests Prompt Therapy Adjustments in Epilepsy

Physicians at a Boston hospital adjusted medical management for nearly three-quarters of patients with infantile- or childhood-onset epilepsy who were diagnosed with genetic epilepsy, researchers reported at the annual meeting of the American Epilepsy Society. The findings provide new insight into the usefulness of genetic tests in children with epilepsy of unknown cause. “Genetic testing is […]

Genetic Testing Benefits Children With Unexplained Epilepsy

Genetic Testing Benefits Children With Unexplained Epilepsy

Findings can alter treatment, prognosis, overall care Genetic testing affected the medical care of nearly three of four children with unexplained epilepsy, a study of patients with infantile or childhood-onset seizures showed. A genetic diagnosis had a direct impact on medical management in at least one category for 72% of patients and in more than […]

Genetic Tests Prompt Therapy Adjustments in Epilepsy

Advances in Genetic and Imaging Research Enhances Possibility of Cure for Epilepsy

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.

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 […]

Study focuses on genetic neurological disorders that develop in children over time.

Study focuses on genetic neurological disorders that develop in children over time.

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 […]

Genetic Tests Prompt Therapy Adjustments in Epilepsy

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 […]

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