Article
Exome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients:relevance of NOTCH3 and GLA variants.
Journal of neurology - 1 Mar 2023
Härtl Johanna, Hartberger Julia, Wunderlich Silke, Cordts Isabell, Bafligil Cemsel, Sturm Marc, Westphal Dominik, Haack Tobias, Hemmer Bernhard, Ikenberg Benno David, Deschauer Marcus
Abstract excerpt
BACKGROUND: Genetic variants are considered to have a crucial impact on the occurrence of ischemic stroke. In clinical routine, the diagnostic value of next-generation sequencing (NGS) in the medical clarification of acute juvenile stroke has not been investigated so far. MATERIAL AND METHODS: We analyzed an exome-based gene panel of 349 genes in 172 clinically well-characterized patients with magnetic resonance...
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