Clinical Relevance of Genetic Variants in Juvenile Stroke Patients: A Plea for a Precise Classification
Corresponding Author
Johanna Härtl MD
School of Medicine, Klinikum rechts der Isar, Department of Neurology, Technical University of Munich, Munich, Germany
Address correspondence to Dr Härtl, School of Medicine, Klinikum rechts der Isar, Department of Neurology, Technical University of Munich, Ismaninger Str 22, 81675 München, Germany. E-mail: [email protected]
Search for more papers by this authorTobias B. Haack MD
Eberhard Karls University, School of Medicine, Universitätsklinikum Tübingen, Institute of Medical Genetics and Applied Genomics, Tübingen, Germany
Search for more papers by this authorIsabell Cordts MD
School of Medicine, Klinikum rechts der Isar, Department of Neurology, Technical University of Munich, Munich, Germany
Search for more papers by this authorMarcus Deschauer MD
School of Medicine, Klinikum rechts der Isar, Department of Neurology, Technical University of Munich, Munich, Germany
Search for more papers by this authorCorresponding Author
Johanna Härtl MD
School of Medicine, Klinikum rechts der Isar, Department of Neurology, Technical University of Munich, Munich, Germany
Address correspondence to Dr Härtl, School of Medicine, Klinikum rechts der Isar, Department of Neurology, Technical University of Munich, Ismaninger Str 22, 81675 München, Germany. E-mail: [email protected]
Search for more papers by this authorTobias B. Haack MD
Eberhard Karls University, School of Medicine, Universitätsklinikum Tübingen, Institute of Medical Genetics and Applied Genomics, Tübingen, Germany
Search for more papers by this authorIsabell Cordts MD
School of Medicine, Klinikum rechts der Isar, Department of Neurology, Technical University of Munich, Munich, Germany
Search for more papers by this authorMarcus Deschauer MD
School of Medicine, Klinikum rechts der Isar, Department of Neurology, Technical University of Munich, Munich, Germany
Search for more papers by this author
References
- 1Park H-K, Lee K-J, Park J-M, et al. Prevalence of mutations in Mendelian stroke genes in early onset stroke patients. Ann Neurol 2023; 93: 768–782. https://doi.org/10.1002/ana.26575.
- 2De Vilder EYG, Cardoen S, Hosen MJ, et al. Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke. Brain Pathol 2018; 28: 822–831. https://doi.org/10.1111/bpa.12620.
- 3Bersano A, Khan N, Fuentes B, et al. European stroke organisation (ESO) guidelines on Moyamoya angiopathy: endorsed by vascular European reference network (VASCERN). Eur Stroke J 2023; 8: 55–84. https://doi.org/10.1177/23969873221144089.
- 4Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17: 405–423. https://doi.org/10.1038/gim.2015.30.
- 5Härtl J, Hartberger J, Wunderlich S, et al. Exome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients:relevance of NOTCH3 and GLA variants. J Neurol 2022; 270: 1501–1511. https://doi.org/10.1007/s00415-022-11401-7.
