Using exome sequences for 6,753 parent-child trios, researchers saw genes with increased de novo variant burdens in neurodevelopmental disorders with epilepsy.
In PLOS this week: links between gut microbiome and colorectal cancer mutations, targeted sequencing uncovers genetic susceptibilities to epilepsy in Koreans, and more.
Irish rare disease research center FutureNeuro is partnering with software vendor Congenica to bring sequencing to the point of care for genetic epilepsies.
The company has yet to release formal studies, but discussed two cases that illustrate the potential benefit of the methodology in improving patient treatment.
The company is developing an epilepsy test based on inflammatory proteins in patient blood that is intended for ruling out patients with seizure-like symptoms.
A pair of new studies evaluated whole-exome sequencing and other genetic tests in children with epilepsy and in other undiagnosed monogenic disease cases.
