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Updated Stroke Gene Panels: Rapid evolution of knowledge on monogenic causes of stroke.

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.

SUBMITTER: Ilinca A

PROVIDER: S-EPMC9905069 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature

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Updated Stroke Gene Panels: Rapid evolution of knowledge on monogenic causes of stroke.

Ilinca Andreea A Puschmann Andreas A Putaala Jukka J de Leeuw Frank Erik FE Cole John J Kittner Stephen S Kristoffersson Ulf U Lindgren Arne G AG

European journal of human genetics : EJHG 20221017 2

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 ...[more]

PMID: 36253534

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Updated Stroke Gene Panels: Rapid evolution of knowledge on monogenic causes of stroke.

Publications

Updated Stroke Gene Panels: Rapid evolution of knowledge on monogenic causes of stroke.

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