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Genetic Variants of the NOTCH3 Gene in Migraine—A Mutation Analysis and Association Study
Cephalalgia, 2006Mutations in the NOTCH3 gene cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Exons 3 and 4 are mutation hotspots. Migraine is a clinical hallmark of CADASIL. The objective of this study was to investigate whether genetic variants in exons 3 and 4 of the NOTCH3 gene are associated with migraine.
F Stögbauer
exaly +3 more sources
Two novel mutations of the NOTCH3 gene in Korean patients with CADASIL
Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 2006Mutations in the NOTCH3 gene (NOTCH3) are responsible for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), an adult-onset hereditary angiopathy leading to ischemic episodes, vascular dementia and other neurologic deficits.
Youngho, Kim +4 more
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A Next-Generation Sequencing of the NOTCH3 and HTRA1 Genes in CADASIL Patients
Journal of Molecular Neuroscience, 2015Our purpose was to develop a next-generation sequencing procedure to search for NOTCH3 and HTRA1 mutations in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) features. A total of 70 patients were sequenced with semiconductor chips in an Ion Torrent Personal Genome Machine.
Angela, Fernández +4 more
openaire +2 more sources
Novel mutation of the Notch3 gene in a Japanese patient with CADASIL
European Journal of Neurology, 2007We report a novel missense mutation of the Notch3 gene in a Japanese family with CADASIL. The Cys49Gly mutation in this family is located in exon 2 of the Notch3 gene. Most of the documented Notch3 gene mutations occur in exons 3 or 4. On the other hand, there are few reports around the world of mutations in exon 2 of the Notch3 gene, and this is the ...
K, Oki +8 more
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A novel frameshift variant in the CADASIL gene NOTCH3: pathogenic or not?
Journal of Neurology, 2018Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) represents the most common monogenic cause of adult-onset ischemic stroke and vascular dementia. It is caused by heterozygous missense mutations in the NOTCH3 gene, encoding a transmembrane receptor protein on vascular smooth muscle cells.
Schubert V +4 more
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Mutations of the Notch3 Gene in Non-Caucasian Patients with Suspected CADASIL Syndrome
Dementia and Geriatric Cognitive Disorders, 2001The Notch3 gene has been recently identified as a causative gene for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). To investigate the genetic contribution of Notch mutations in familial cases with vascular leukoencephalopathy, we screened 13 patients from 11 unrelated families, which were selected
S, Kotorii +12 more
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A novel NOTCH3 gene mutation in a Turkish family
20195th Congress of the European-Academy-of-Neurology (EAN) -- JUN 29-JUL 02, 2019 -- -- Oslo ...
Temel, O. +4 more
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Headache and NOTCH3 Gene Variants in Patients with CADASIL
Neurology International, 2023Izabela Korczowska-Łącka +2 more
exaly
A Chinese CADASIL Family with a Novel Mutation on Exon 10 of Notch3 Gene
Journal of Stroke and Cerebrovascular Diseases, 2021Qi Fang, Shanshan Diao
exaly