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Article

Neonatal/infantile‐onset genetic epilepsies: The utility of genetic testing for molecular etiology‐specific diagnosis concerning therapeutic implications

12 Mar 2025

Abstract excerpt

OBJECTIVE: To evaluate the significance of genetic testing in neonatal- and infantile-onset genetic epilepsies (NIGEP) for enhanced molecular diagnosis with management implications. METHODS: A single-center cohort of 128 patients with NIGEP (aged 0-36 months) from 2010 to 2022 was retrospectively assessed. The diagnostic utility of genetic testing, including next-generation sequencing (NGS) and chromosome-based...

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PMID: 40072314
DOI: 10.1002/epd2.70012

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