Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications

Conclusion: This study demonstrates the high diagnostic and therapeutic utility of large panel testing in childhood epilepsies irrespective of seizure types. Copy number variations and somatic mosaic variants are important disease-causing factors, pointing the need for comprehensive genetic testing in all unexplained cases. Pleiotropy is a common phenomenon contributing to the growing phenotypic complexity of single-gene epilepsies.
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research