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Article

Next-generation sequencing in children with epilepsy: The importance of precise genotype-phenotype correlation.

Epilepsy & behavior : E&B - 1 Mar 2022

Horák Ondřej, Burešová Martina, Kolář Senad, Španělová Klára, Jeřábková Barbora, Gaillyová Renata, Česká Katarína, Réblová Kamila, Šoukalová Jana, Zídková Jana, Fajkusová Lenka, Ošlejšková Hana, Rektor Ivan, Danhofer Pavlína

Abstract excerpt

AIM: The primary goal was to determine the yield of next-generation sequencing (NGS) epilepsy gene panels used for epilepsy etiology diagnosing using a multidisciplinary approach and to demonstrate the importance of genotype-phenotype correlations. The secondary goal was to evaluate the application of precision medicine in selected patients. METHODS: This single-center retrospective study included a total of 175...

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Identifiers

PMID: 35065395
DOI: 10.1016/j.yebeh.2022.108564

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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