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Idiopathic neonatal arterial ischaemic stroke: a trio-based whole-exome sequencing study.

Archives of disease in childhood. Fetal and neonatal edition - 19 Aug 2026

Olival Jonathan, Hoenicka Janet, Arca Gemma, Arnaez Juan, Agut Thais, Maynou Joan, Stephan-Otto Christian, Núñez Christian, Benavente Isabel, Lubián-López Simón, Palau Francesc, García-Alix Alfredo

Abstract excerpt

OBJECTIVE: To assess the contribution of rare coding genetic variants to idiopathic neonatal arterial ischaemic stroke (NAIS). DESIGN: Observational genetic study using trio-based whole-exome sequencing (WES). SETTING: Multicentre study. PATIENTS: 23 newborns diagnosed with idiopathic NAIS and their biological parents. INTERVENTIONS: WES-trio with a customised workflow for filtering and interpreting variants in...

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Exome Sequencing
Genetic Predisposition to Disease
Infant, Newborn
Ischemic Stroke

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 41412751
DOI: 10.1136/archdischild-2025-329771

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PIK3CD

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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