Gisela Marie Terwindt

Gisela Marie Terwindt

Departments Of Human Genetics (Ms De Vries And Drs Vanmolkot, Frants, And Van Den Maagdenberg), Neurology (Drs Stam, Haan, Terwindt, Ferrari, And Van Den Maagdenberg), And ...

Direct Impact

Concepts for which Gisela Marie Terwindt has direct influence:

cluster headache
familial hemiplegic migraine
retinal vasculopathy
ischemic stroke
cerebral leukoencephalopathy
visual snow
premonitory symptoms

External impact

Concepts related to the work of other authors for which Gisela Marie Terwindt has influence:

familial hemiplegic migraine
major depression
cluster headache
prrt2 gene
boston criteria
direct identification
metabolic syndrome

Prominent publications by Gisela Marie Terwindt

KOL-Index: 87 Migraine and major depressive disorder (MDD) are common brain disorders that frequently co-occur. Despite epidemiological evidence that migraine and MDD share a genetic basis, their overlap at the molecular genetic level has not been thoroughly investigated. Using single-nucleotide polymorphism (SNP) and gene-based analysis of genome-wide association study (GWAS) genotype data, we found ...
KOL-Index: 72 Aarno Palotie and colleagues present results of a large genome-wide association study of migraine. They identified significant associations at 38 distinct loci and found enrichment for genes expressed in vascular and smooth muscle tissues.
Known for
Loci Migraine
KOL-Index: 61 CADASIL is an autosomal dominant inherited disease, characterized by mid-adult onset of cerebrovascular disease and dementia. CADASIL is caused by mutations in the NOTCH3 gene, which encodes the NOTCH3 protein. Pathogenic mutations in CADASIL are highly distinctive in the sense that they lead to the loss or gain of a cysteine residue in 1 of the 34 EGFr domains of the NOTCH3 protein. The ...
Known for
Numerical Cysteine | Mutations Diagnosis | Interpretation Notch3
KOL-Index: 61 Migraine is a common brain disorder with a large genetic component. Of the two main migraine types, migraine with aura and migraine without aura, the genetic underpinning in the former is least understood. Given the evidence from epidemiological studies in cohorts and families that the genetic contribution is highest in migraine with aura, this seems paradoxical. Various genetic approaches ...
Known for
Genome-Wide Significance | Genetic Component | Hypothesis-Free Manner | So-Called Candidate Gene Associations
KOL-Index: 54 White matter hyperintensities (WMH) are the most common brain-imaging feature of cerebral small vessel disease (SVD), hypertension being the main known risk factor. Here, we identify 27 genome-wide loci for WMH-volume in a cohort of 50,970 older individuals, accounting for modification/confounding by hypertension. Aggregated WMH risk variants were associated with altered white matter ...
Known for
High-Risk | Larger Wmh-Volume | Potential | Genetically-Informed Prioritization
KOL-Index: 47 BACKGROUND: Hemiplegic migraine (HM) and alternating hemiplegia of childhood (AHC) are rare episodic neurological brain disorders with partial clinical and genetic overlap. Recently, ATP1A3 mutations were shown to account for the majority of AHC patients. In addition, a mutation in the SLC2A1 gene was reported in a patient with atypical AHC. We therefore investigated whether mutations in ...
Known for
Linking Hemiplegic | Mutation Slc2a1 | Typical Ahc | Genetic Overlap
KOL-Index: 47 BACKGROUND: Migraine and major depressive disorder (commonly referred to as depression) are both common disorders with a significant impact on society. Studies in both clinical and community-based settings have demonstrated a strong relationship between migraine and depression. In addition to complicating the diagnosis, depression that is comorbid with migraine may lower treatment adherence, ...
Known for
Depression Disorder | Epidemiology Migraine
KOL-Index: 45 Migraine is a disabling primary headache disorder that directly affects more than one billion people worldwide. Despite its widespread prevalence, migraine remains under-diagnosed and under-treated. To support clinical decision-making, we convened a European panel of experts to develop a ten-step approach to the diagnosis and management of migraine. Each step was established by expert ...
Known for
European Headache | Migraine Step | Diagnosis Management
KOL-Index: 43 Familial hemiplegic migraine (FHM) is an autosomal dominant subtype of migraine with aura, with half of the families being assigned to chromosome 19p13. We identified missense mutations in a brain-specific calcium channel alpha1A-subunit (CACNA1A) gene on 19p13 segregating with FHM and truncating mutations in families with episodic ataxia type 2 (EA-2). Expansions of an intragenic CAG repeat ...
Known for
Migraine Cerebellar | Episodic Ataxia | Cag Repeats | Autosomal Dominant Subtype
KOL-Index: 43 Botulinum toxin A (BTA) is widely used as treatment of chronic migraine. Efficacy in studies, however, was only modest and likely influenced by unblinding due to BTA-induced removal of forehead wrinkles. Moreover, most study participants were overusing acute headache medications and might have benefitted from withdrawal. We assessed in a double blind, placebo-controlled, randomized clinical ...
Known for
Enlarged Reduced | Profiles Laboratory | Mice Litter | Current Reproductive Effort

Departments of Human Genetics (Ms de Vries and Drs Vanmolkot, Frants, and van den Maagdenberg), Neurology (Drs Stam, Haan, Terwindt, Ferrari, and van den Maagdenberg), and Clinical Genetics (Dr Boon), Leiden University Medical Centre, Leiden, the Net

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