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Article

Whole-exome sequencing with targeted analysis and epilepsy after acute symptomatic neonatal seizures.

Pediatric research - 1 Mar 2022

Numis Adam L, da Gente Gilberto, Sherr Elliott H, Glass Hannah C

Abstract excerpt

BACKGROUND: The contribution of pathogenic gene variants with development of epilepsy after acute symptomatic neonatal seizures is not known. METHODS: Case-control study of 20 trios in children with a history of acute symptomatic neonatal seizures: 10 with and 10 without post-neonatal epilepsy. We performed whole-exome sequencing (WES) and identified pathogenic de novo, transmitted, and non-transmitted variants...

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Identifiers

PMID: 33846556
DOI: 10.1038/s41390-021-01509-3
PMCID: PMC9064802

Provenance

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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