epilepsy
Epilepsy Management Often Shifts After Multigene Panel Testing, Study Finds
Researchers tracked treatment and outcome changes in a retrospective analysis of epilepsy patients with pathogenic or likely pathogenic variants found by multigene panel testing.
Childhood Epilepsy Risk Variant Traced Back to 800-Year-Old British Founder Event
A childhood epilepsy risk allele found in 14 affected families was traced back to a founder event going back 800 years that spread from Britain to other parts of the world.
Orphan Gene Linked to Neurodevelopmental Disorder Characterized by Hearing Loss
Through a sequencing screen of patients, researchers identified biallelic variants in SPATA5L1 that were associated with hearing loss, intellectual disability, and epilepsy.
Genetic Testing Results Influence Epilepsy Patient Care and Outcomes, Study Presented at NSGC Finds
Changes in clinical management of epilepsy patients based on genetic testing results led to a decrease in seizure frequency for many patients.
The widely dispersed health system is integrating the Congenica platform into its clinical and research workflows to uncover genetic bases for rare conditions.