The phenotypic spectrum associated with loss-of-function variants in monogenic epilepsy genes in the general population

2023 in the European Journal of Human Genetics

“…Part of the issues with interpreting genome variants is understanding their clinical effect. Interestingly, pathogenic variants causing epilepsy are found in the general population and associated with neurological and psychiatric conditions [8].…”

The value of exomes across the ages

“…Three genes previously considered suitable for clinical screening were now only recommended for research, whereas 10 other stroke-genes were strengthened and now fulfill the criteria for clinical testing. Smuk et al report novel phenotypic insights from genome sequencing of epilepsy genes [13] and Boonsimma et al treatment implications from exome testing in epilepsy [14].…”