Genetic testing for unexplained epilepsy: A review of diagnostic approach, benefits, and referral algorithm.
Publication/Presentation Date
8-1-2024
Abstract
In 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.
Volume
54
Issue
8
First Page
101579
Last Page
101579
ISSN
1538-3199
Published In/Presented At
Karlin, A., Ruggiero, S., & Fitzgerald, M. (2024). Genetic testing for unexplained epilepsy: A review of diagnostic approach, benefits, and referral algorithm. Current problems in pediatric and adolescent health care, 54(8), 101579. https://doi.org/10.1016/j.cppeds.2024.101579
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
38480044
Department(s)
Department of Pediatrics
Document Type
Article