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Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications

5 Jan 2024

Abstract excerpt

Introduction: Epilepsy is one of the commonest diseases in children, characterized by extensive phenotypic and genetic heterogeneity. This study was conducted to determine the diagnostic utility and to identify novel clinical and therapeutic implications of genetic testing in pediatric patients with epilepsy. Methods: Large multigene panel and/or exome sequencing was performed in 127 unrelated Polish and...

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PMID: 38250573
DOI: 10.3389/fgene.2023.1300952

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