Faculty Opinions recommendation of Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.
Year: 2019
Type: peer-review
Abstract: Pediatric epilepsies are a group of disorders with a broad phenotypic spectrum that are associated with great genetic heterogeneity, thus making sequential single-gene testing an impractical basis for diagnostic strategy.The advent of next-generation sequencing has increased the success rate of epilepsy diagnosis, and targeted resequencing using genetic panels is the a most cost-effective choice.We report the results found in a group of 87 patients with epilepsy and developmental delay using targeted next generation sequencing (custom-designed Haloplex panel).Using this gene panel, we were able to identify diseasecausing variants in 17 out of 87 (19.5%) analyzed patients, all found in known epilepsyassociated genes (KCNQ2, CDKL5, STXBP1, SCN1A, PCDH19, POLG, SLC2A1, ARX, ALG13, CHD2, SYNGAP1, and GRIN1).Twelve of 18 variants arose de novo and 6 were novel.The highest yield was found in patients with onset in the first years of life, especially in patients classified as having early-onset epileptic encephalopathy.Knowledge of the underlying genetic cause provides essential information on prognosis and could be used to avoid unnecessary studies, which may result in a greater diagnostic cost-effectiveness.
Author: Robert Greenwood
Institution: University of North Carolina at Chapel Hill
Language: English
Subfield: Psychiatry and Mental health
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W4242286233