Current practice in diagnostic genetic testing of the epilepsies

• DOI: 10.1684/epd.2022.1448
• Publication Date: 2022-07-13T16:00:30Z
• Authors: Ilona Krey; Konrad Platzer; Alina Esterhuizen; Samuel F. Berkovic; Ingo Helbig; Michael S. Hildeb...; Holger Lerche; Daniel Lowenstein; Rikke S. Møller; Annapurna Poduri; Lynette Sadleir; Sanjay M. Sisodiya; Sarah Weckhuysen; Jo M. Wilmshurst; Yvonne Weber; Johannes R. Lemke
• Keywords: Identification

Epilepsy genetics is a rapidly developing field, in which novel disease-associated genes, mechanisms associated with epilepsy, and precision medicine approaches are continuously being identified. In the past decade, advances genomic knowledge analysis platforms have begun to make clinical genetic testing accessible for, principle, people of all ages epilepsy. For this reason, Genetics Commission International League Against (ILAE) presents update on practice, including current techniques, indications, yield testing, recommendations for pre- post-test counseling, follow-up after completed. We acknowledge that resources vary across different settings but highlight diagnostic epilepsy should be prioritized when likelihood an informative finding high. Results particular identification causative variants, likely improve individual care. emphasize importance individuals as we enter era therapy.