Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.

doi:10.3390/genes17020133

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Article

Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.

Genes - 27 Jan 2026

Chałupczyńska Beata, Ciara Elżbieta, Halat-Wolska Paulina, Pollak Agnieszka, Stawiński Piotr, Jurkiewicz Dorota, Piekutowska-Abramczuk Dorota, Gawlik Marzena, Pietrasik Justyna, Cieślikowska Agata, Wicher Dorota, Ulatowska Agata, Jedlińska Dominika, Borkowska Julita, Chmielewski Dariusz, Dunin-Wąsowicz Dorota, Kotulska-Jóźwiak Katarzyna, Chrzanowska Krystyna, Madej-Pilarczyk Agnieszka

Abstract excerpt

Introduction: Epilepsy syndromes show marked clinical and genetic heterogeneity, with numerous functionally diverse genes involved in their etiology. Next-generation sequencing (NGS) has facilitated the identification of many monogenic epilepsy syndromes and enables earlier, more accurate diagnosis in pediatric patients. Materials and Methods: This study analyzes the molecular profiles of 87 pediatric patients...

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Identifiers

PMID: 41751517
DOI: 10.3390/genes17020133
PMCID: PMC12940239

Genes

KCNQ2
SCN1A
ALG13
ATP1A2
CACNA1A
CDKL5
CHD2
GABRG2
ITPA
PCDH19
SCN2A
SCN3A
SCN8A
SMC1A
SPTAN1
STXBP1
UBA5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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