epilepsy
GeneDx Launches Program to Boost Access to Exome Testing for Pediatric Epilepsy Patients
In partnership with Biogen, Praxis Precision Medicines, and Stoke Therapeutics, the program will also contribute to GeneDx's rare disease database.
Focal Epilepsy Study Uncovers Distinct Mechanism for Brain Mosaicism
Researchers found that a subset of infant focal epilepsy cases involved brain-specific mosaic mutations due to meiotic errors that were rescued in other tissues.
GWAS Meta-Analysis Identifies 26 Risk Loci Linked to Epilepsy
Researchers from the International League Against Epilepsy Consortium included 29,944 epilepsy cases and 52,538 controls in their analysis.
Initial results from a multinational rapid WGS newborn screening program are promising, though organizers hope to create a longitudinal study to support potential clinical uptake.
Epilepsy Subtypes Linked to Rare Variants, Related Genes
Researchers got a look at the pathology and mechanisms behind three epilepsy subtypes by analyzing genes with higher-than-usual rates of rare variants in affected individuals.