Genetic Testing in Children with Epilepsy: Report of a Single-Center Experience.

So LeeNatalya KarpEugenio Zapata-AldanaBekim SadikovicPing YangTuğçe B Balcı Asuri Narayan Prasad

Published in: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques (2020)

Our study confirms the multiple benefits of detecting a genetic etiology in children with epilepsy. Similar yields in single versus multigene testing underscore the importance of accurate clinical phenotyping. Patients with epilepsy and their caregivers in Ontario would undoubtedly benefit from repatriation of multigene panels and WES to the province.

Keyphrases

young adults
south africa
high throughput
high resolution
genome wide
gene expression
dna methylation
single cell