epilepsy
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.
Epilepsy Linked to Alzheimer's Disease Risk Variants in New Analysis
Results from a Mendelian randomization analysis based on data from a genome-wide association meta-analysis point to ties between Alzheimer's and some forms of epilepsy.