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Article

Identification of Novel Gene Variants in Children With Drug-Resistant Epilepsy: Expanding the Genetic Spectrum.

Pediatric neurology - 1 Feb 2023

Kocaaga Ayca, Yimenicioglu Sevgi

Abstract excerpt

BACKGROUND: Resistance to antiseizure drugs is an important problem in the treatment of individuals with epilepsy. Identifying the molecular etiology of drug-resistant epilepsy (DRE) is crucial for better management of epilepsy. Here, we explore the utility of whole exome sequencing (WES) in identifying causative gene variants in children with DRE. METHODS: Forty-five children with DRE who underwent WES tests...

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Identifiers

PMID: 36493596
DOI: 10.1016/j.pediatrneurol.2022.11.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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