Idiopathic neonatal arterial ischaemic stroke: a trio-based whole-exome sequencing study
Trio-based WES did not identify a monogenic cause for idiopathic NAIS. Coding variants therefore appear unlikely to explain the underlying genetic base of the disease. Furthermore, <i>PIK3CD</i> (p.Gln431Arg) may contribute to perforant stroke, although it requires further association evidence. As the potential role of non-coding or structural variants in NAIS remains possible, genome-wide long-read sequencing approaches may provide further insights into the genetic architecture of this condition.
Authors
- Simón Pedro Lubián‐López (ORCID: https://orcid.org/0000-0002-2937-778X)
- Christian Núñez (ORCID: https://orcid.org/0000-0003-4104-6235)
- Janet Hoenicka (ORCID: https://orcid.org/0000-0002-6790-6988)
- Christian Stephan‐Otto (ORCID: https://orcid.org/0000-0002-6326-7648)
- Alfredo García‐Alix (ORCID: https://orcid.org/0000-0002-7972-8453)
- Gemma Arca (ORCID: https://orcid.org/0000-0003-3647-0656)
- Jonathan Olival (ORCID: https://orcid.org/0000-0001-8824-2896)
- Isabel Benavente‐Fernández (ORCID: https://orcid.org/0000-0001-9276-1912)
- Juan Arnáez (ORCID: https://orcid.org/0000-0001-8883-5181)
- Joan Maynou
- Thaïs Agut (ORCID: https://orcid.org/0000-0002-5673-0016)
- Francesc Palau (ORCID: https://orcid.org/0000-0002-8635-5421)
Institutions
- Hospital Sant Joan de Déu Barcelona (ES)
- Instituto de Salud Carlos III (ES)
- Hospital de Sant Pau (ES)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Hospital Clínic de Barcelona (ES)
- Hospital Universitario de Burgos (ES)
- Lions Eye Bank at Albany (US)
- Parc Sanitari Sant Joan de Déu (ES)
- Hospital Universitario Puerta del Mar (ES)
Publication Details
- Journal
- Archives of Disease in Childhood Fetal & Neonatal
- Published
- 2025-12-18
- DOI
- https://doi.org/10.1136/archdischild-2025-329771
- Primary Topic
- Blood Coagulation and Thrombosis Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00