Epilepsy as a Component of the Dysmorphic-Neurodevelopmental Phenotype in Pediatric Patients with Recurrent Copy Number Variants.

doi:10.3390/genes17030256

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Article

Epilepsy as a Component of the Dysmorphic-Neurodevelopmental Phenotype in Pediatric Patients with Recurrent Copy Number Variants.

Genes - 25 Feb 2026

Młynek Marlena, Wicher Dorota, Cieślikowska Agata, Urbańska Katarzyna, Przywoźna-Zduńczyk Kamila, Zawadzka-Więch Urszula, Markowska-Krawczyk Klaudia, Bal Aneta, Purwin Sylwia, Sielska-Rotblum Danuta, Halat-Wolska Paulina, Iwanowski Piotr, Iwanicka-Pronicka Katarzyna, Jędrzejowska Maria, Kowalczyk-Rusak Monika, Pietrasik Justyna, Chrzanowska Krystyna, Domańska-Pakieła Dorota, Kotulska-Jóźwiak Katarzyna, Krajewska-Walasek Małgorzata, Madej-Pilarczyk Agnieszka

Abstract excerpt

Objective: Copy number variants (CNVs) overlapping genes associated with neurodevelopmental disorders in patients with epilepsy are particularly concentrated in epilepsy hotspot loci. The aim of this study was to evaluate epilepsy as a component of the dysmorphic-neurodevelopmental phenotype in patients with recurrent CNVs. Methods: The study included genetic and clinical data from 177 pediatric patients carrying...

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PMID: 41898790
DOI: 10.3390/genes17030256
PMCID: PMC13026247

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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