Epilepsy Subtypes Linked to Rare Variants, Related Genes
June 30, 2023
Article found on GenomeWeb
An international team led by investigators at the University of Leipzig Medical Center and the Max Planck Institute for Evolutionary Anthropology has uncovered an overrepresentation of rare genetic variants found in the general population in individuals with epilepsy, particularly those with a form known as non-acquired focal epilepsy (NAFE).
“Our results support the hypothesis that rare variants could be important in the NAFE pathomechanism,” senior and co-corresponding author Diana Le Duc, a human genetics researcher at the University of Leipzig and the Max Planck Institute of Evolutionary Anthropology, and her colleagues wrote in the American Journal of Human Genetics on Monday, noting that the affected gene set suggests the brain extracellular matrix appears to play a central role in NAFE.