ArticleEuropean journal of human genetics : EJHG2023
Updated Stroke Gene Panels: Rapid evolution of knowledge on monogenic causes of stroke.
Article in European journal of human genetics : EJHG, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Article
- Identification of Novel Genetic Risk Variants Associated With Early-Onset Ischemic Stroke in Taiwan.Neurology · 2026Article
- A single-center study: three years of experience with whole-exome sequencing in diagnosing pediatric hematological disorders.Italian journal of pediatrics · 2026Article
- Genetic background of neurological disorders with basal ganglia calcification.Journal of neurology · 2025Article
- Identification of Monogenic Causes of Arterial Ischemic Stroke in Children with Arteriopathies by Next-Generation Sequencing.International journal of molecular sciences · 2025Article
- Genetic Testing for Monogenic Stroke.Stroke · 2024Article
- A novel NODAL variant in a young embolic stroke patient with visceral heterotaxy.BMC neurology · 2024Article
- Genomic analysis of presumed perinatal stroke in Saudi Arabia reveals a strong monogenic contribution.Human genetics · 2024Article
- The value of exomes across the ages.European journal of human genetics : EJHG · 2023Article
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8 authors.
Funding
Abstract
This article updates our previous Stroke Gene Panels (SGP) from 2017. Online Mendelian Inheritance in Man and PubMed were searched. We divided detected genes into two SGP groups, SGP1: genes reported in at least one person with stroke and associated with one or more clinical subgroups: large artery atherosclerotic, large artery non-atherosclerotic (tortuosity, dolichoectasia, aneurysm, non-atherosclerotic dissection or occlusion), cerebral small vessel diseases, cardio-embolic (arrhythmia, heart defect, cardiomyopathy), coagulation dysfunctions (venous thrombosis, arterial thrombosis, bleeding tendency), intracerebral hemorrhage, vascular malformations (cavernoma, arteriovenous malformations) and metabolism disorders; and SGP2: genes related to diseases that may predispose to stroke. We identified 168 SGP1 genes, 70 of these were validated for clinical practice. We also detected 72 SGP2 genes. Nine genes were removed because of conflicting evidence. The number of genes increased from 168 to 240 during 4.5-years, reflecting a dynamic evolution and the need for regular updates for research and clinical use.
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