Genetic testing for unexplained epilepsy: A review of diagnostic approach, benefits, and referral algorithm

Curr Probl Pediatr Adolesc Health Care. 2024 Mar 13:101579. doi: 10.1016/j.cppeds.2024.101579. Online ahead of print.ABSTRACTIn the last several decades, advances in genetic testing have transformed the diagnostic and therapeutic approach to pediatric epilepsy. However, the interpretation of these genetic tests often requires expert analysis and counseling. For this reason, as our molecular understanding of the linkages between abnormal cerebral physiology and genetics has grown, so too has the field of clinical epilepsy genetics. Here we explore recent advances in genetic testing, describe the benefits of genetic testing in epilepsy, and provide a practice guideline for testing and referrals to specialized epilepsy genetics centers, highlighting the Epilepsy NeuroGenetics Initiative (ENGIN) Clinic and the Center for Epilepsy and Neurodevelopmental Disorders (ENDD) at the Children's Hospital of Philadelphia as an illustration of such a specialized center.PMID:38480044 | DOI:10.1016/j.cppeds.2024.101579
Source: Epilepsy Curr - Category: Neurology Authors: Source Type: research