Article
Clinical application of whole-exome sequencing analysis in childhood epilepsy.
Journal of neurogenetics - 1 Dec 2024
Gavaz Meral, Aslan Elif S, Tekeş Selahattin
Abstract excerpt
The swift updates of public databases and advancements in next-generation sequencing (NGS) technologies have enhanced the genetic identification capacities of epilepsy clinics. This study aimed to evaluate the diagnostic efficacy of NGS in pediatric epilepsy patients as a whole and to present the data obtained in the whole exome sequence analysis. We enrolled 40 children with suspected childhood epilepsy in this...
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