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Migraine Variants

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Exploring Neuronal Vulnerability to Head Trauma using a Whole Exome Approach.

Omar Ibrahim, Heidi G Sutherland, Neven Maksemous, Robert A Smith, Larisa M Haupt, Lyn R Griffiths,

Brain injuries are associated with oxidative stress and a need to restore neuronal homeostasis. Mutations in ion channel genes, in particular, CACNA1A have been implicated in familial hemiplegic migraine (FHM) and in the development of concussion-related symptoms in response to trivial head trauma. The aim of this study was to ... Read more >>

J. Neurotrauma (Journal of neurotrauma)
[2020, :]

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Pattern of triptans use: a retrospective prescription study in Calabria, Italy.

Damiana Scuteri, Annagrazia Adornetto, Laura Rombolà, Maria Diana Naturale, Adele Emanuela De Francesco, Stefania Esposito, Mariacristina Zito, Luigi Antonio Morrone, Giacinto Bagetta, Paolo Tonin, Maria Tiziana Corasaniti,

Triptans are 5-hydroxytryptamine 1B/1D receptor agonists used in moderate to severe migraine attacks as first line when non-specific, symptomatic, nonsteroidal anti-inflammatory drugs are not effective. To gain insight in the treatment of migraine in the regional context, this retrospective (from January to August of the years 2017 and 2018) study ... Read more >>

Neural Regen Res (Neural regeneration research)
[2020, 15(7):1340-1343]

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Familial analysis reveals rare risk variants for migraine in regulatory regions.

Tanya Ramdal Techlo, Andreas Høiberg Rasmussen, Peter L Møller, Morten Bøttcher, Simon Winther, Olafur B Davidsson, Isa A Olofsson, Mona Ameri Chalmer, Lisette J A Kogelman, Mette Nyegaard, Jes Olesen, Thomas Folkmann Hansen,

The most recent genome-wide association study of migraine increased the total number of known migraine risk loci to 38. Still, most of the heritability of migraine remains unexplained, and it has been suggested that rare gene dysregulatory variants play an important role in migraine etiology. Addressing the missing heritability of ... Read more >>

Neurogenetics (Neurogenetics)
[2020, :]

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Genetic variants in migraine: a field synopsis and systematic re-analysis of meta-analyses.

Yating Zhao, Ruixia Zhu, Tongling Xiao, Xu Liu,

OBJECTIVE:Numerous genetic variants from meta-analyses of observational studies and GWAS were reported to be associated with migraine susceptibility. However, due to the random errors in meta-analyses, the noteworthiness of the results showing statistically significant remains doubtful. Thus, we performed this field synopsis and re-analysis study to evaluate the noteworthiness using ... Read more >>

J Headache Pain (The journal of headache and pain)
[2020, 21(1):13]

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Mitochondrial genome-wide association study of migraine - the HUNT Study.

Sigrid Børte, John-Anker Zwart, Anne Heidi Skogholt, Maiken Elvestad Gabrielsen, Laurent F Thomas, Lars G Fritsche, Ida Surakka, Jonas B Nielsen, Wei Zhou, Brooke N Wolford, Magnus D Vigeland, Knut Hagen, Espen Saxhaug Kristoffersen, Dale R Nyholt, Daniel I Chasman, Ben M Brumpton, Cristen J Willer, Bendik S Winsvold,

BACKGROUND:Variation in mitochondrial DNA (mtDNA) has been indicated in migraine pathogenesis, but genetic studies to date have focused on candidate variants, with sparse findings. We aimed to perform the first mitochondrial genome-wide association study of migraine, examining both single variants and mitochondrial haplogroups. METHODS:In total, 71,860 participants from the population-based ... Read more >>

Cephalalgia (Cephalalgia : an international journal of headache)
[2020, :333102420906835]

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Pathophysiological Mechanisms and Potential Therapeutic Targets in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL).

Martina Locatelli, Alessandro Padovani, Alessandro Pezzini,

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), is a hereditary small-vessels angiopathy caused by mutations in the NOTCH 3 gene, located on chromosome 19, usually affecting middle-ages adults, whose clinical manifestations include migraine with aura, recurrent strokes, mood disorders, and cognitive impairment leading to dementia and disability. ... Read more >>

Front Pharmacol (Frontiers in pharmacology)
[2020, 11:321]

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Investigating diagnostic sequencing techniques for CADASIL diagnosis.

P J Dunn, N Maksemous, R A Smith, H G Sutherland, L M Haupt, L R Griffiths,

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease caused by mutations in the NOTCH3 gene. Our laboratory has been undertaking genetic diagnostic testing for CADASIL since 1997. Work originally utilised Sanger sequencing methods targeting specific NOTCH3 exons. More recently, next-generation sequencing (NGS)-based ... Read more >>

Hum. Genomics (Human genomics)
[2020, 14(1):2]

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HLA class I alleles are associated with clinic-based migraine and increased risks of chronic migraine and medication overuse.

Claire Huang, Shih-Pin Chen, Yu-Han Huang, Hsuan-Yu Chen, Yen-Feng Wang, Mei-Hsuan Lee, Shuu-Jiun Wang,

OBJECTIVE:We aimed to evaluate associations of human leukocyte antigen variants with migraine or headache in hospital and population-based settings. METHODS:The case-control study population, aged 30-70, included 605 clinic-based migraine patients in a medical center and 8449 population-based participants in Taiwan Biobank (TWB). Clinic-based cases were ascertained by neurologists. Participants in ... Read more >>

Cephalalgia (Cephalalgia : an international journal of headache)
[2020, :333102420902228]

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SCN1A variants from bench to bedside-improved clinical prediction from functional characterization.

Andreas Brunklaus, Stephanie Schorge, Alexander D Smith, Ismael Ghanty, Kirsty Stewart, Sarah Gardiner, Juanjiangmeng Du, Eduardo Pérez-Palma, Joseph D Symonds, Abby C Collier, Dennis Lal, Sameer M Zuberi,

Variants in the SCN1A gene are associated with a wide range of disorders including genetic epilepsy with febrile seizures plus (GEFS+), familial hemiplegic migraine (FHM), and the severe childhood epilepsy Dravet syndrome (DS). Predicting disease outcomes based on variant type remains challenging. Despite thousands of SCN1A variants being reported, only ... Read more >>

Hum. Mutat. (Human mutation)
[2019, :]

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TRPM8 genetic variant is associated with chronic migraine and allodynia.

Yu-Hsiang Ling, Shih-Pin Chen, Cathy Shen-Jang Fann, Shuu-Jiun Wang, Yen-Feng Wang,

BACKGROUND:Many single nucleotide polymorphisms (SNPs) have been reported to be associated with migraine susceptibility. However, evidences for their associations with migraine endophenotypes or subtypes are scarce. We aimed to investigate the associations of pre-identified migraine susceptibility loci in Taiwanese with migraine endophenotypes or subtypes, including chronic migraine and allodynia. METHODS:The ... Read more >>

J Headache Pain (The journal of headache and pain)
[2019, 20(1):115]

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A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy).

Bianca R Grosz, Natasha B Golovchenko, Melina Ellis, Kishore Kumar, Garth A Nicholson, Anthony Antonellis, Marina L Kennerson,

EGR2 (early growth response 2) is a crucial transcription factor for the myelination of the peripheral nervous system. Mutations in EGR2 are reported to cause a heterogenous spectrum of peripheral neuropathy with wide variation in both severity and age of onset, including demyelinating and axonal forms of Charcot-Marie Tooth (CMT) ... Read more >>

Sci Rep (Scientific reports)
[2019, 9(1):19336]

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Review of familial hemiplegic migraine, successful outcome in a pregnant patient.

Brent C Monseur, Hannah B Anastasio, Andrew Haddad, Huda B Al-Kouatly,

As the field of neurogenetics is expanding rapidly and variant classification criteria evolve, genetic variants in databases are re-evaluated overtime allowing updated classifications of pathogenicity predication. When caring for patients with genetic disorders, it is important to obtain the original genetic report and also consider an updated reanalysis. ... Read more >>

Clin Case Rep (Clinical case reports)
[2019, 7(12):2495-2499]

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Case Report: New-Onset Retinal Migraine After Transseptal Catheterization.

Lynn Richmond, Ralph P Schneider, Jan Steffel, Peter S Sandor, Alexander A Tarnutzer,

BACKGROUND:While new-onset migraine headaches and binocular visual aura have been reported after transseptal catheterization (TSC), this case suggests that retinal aura may emerge also after this procedure. CASE DESCRIPTION:This 38-year-old male with paroxysmal atrial fibrillation had received TSC and cryoablation, and subsequently developed isolated monocular aura phenomena. The first episode ... Read more >>

Headache (Headache)
[2020, 60(2):463-468]

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How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study.

Rhea Y Y Tan, Matthew Traylor, Karyn Megy, Daniel Duarte, Sri V V Deevi, Olga Shamardina, Rutendo P Mapeta, , Willem H Ouwehand, Stefan Gräf, Kate Downes, Hugh S Markus,

OBJECTIVES:To determine the frequency of rare and pertinent disease-causing variants in small vessel disease (SVD)-associated genes (such as NOTCH3, HTRA1, COL4A1, COL4A2, FOXC1, TREX1, and GLA) in cerebral SVD, we performed targeted gene sequencing in 950 patients with younger-onset apparently sporadic SVD stroke using a targeted sequencing panel. METHODS:We designed ... Read more >>

Neurology (Neurology)
[2019, 93(22):e2007-e2020]

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Higher burden of rare frameshift indels in genes related to synaptic transmission separate familial hemiplegic migraine from common types of migraine.

Andreas Hoiberg Rasmussen, Isa Olofsson, Mona Ameri Chalmer, Jes Olesen, Thomas Folkmann Hansen,

BACKGROUND:Familial hemiplegic migraine (FHM) is a rare form of migraine with aura that often has an autosomal dominant mode of inheritance. Rare mutations in the CACNA1A, ATP1A2 and SCN1A genes can all cause FHM revealing genetic heterogeneity in the disorder. Furthermore, only a small subset of the affected individuals has ... Read more >>

J. Med. Genet. (Journal of medical genetics)
[2020, :]

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A sleep modulated Channelopathy: a novel CACNA1A pathogenic variant identified in episodic Ataxia type 2 and a potential link to sleep alleviated migraine.

Abhimanyu S Ahuja, Todd D Rozen, Paldeep S Atwal,

BACKGROUND:To describe a patient with sleep alleviated episodic ataxia type 2 with a novel CACNA1A pathogenic variant and provide a possible link to sleep responsive migraine. CASE PRESENTATION:A 26-year-old woman with recurrent attacks of dizziness, nausea, vomiting, ataxia and dysarthria presented for a possible diagnosis of vestibular migraine. Unique to ... Read more >>

BMC Neurol (BMC neurology)
[2019, 19(1):246]

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Predicting the impact of sodium channel mutations in human brain disease.

Jeffrey L Noebels,

Genetic alteration of the sodium channel provides a remarkable opportunity to understand how epilepsy and its comorbidities arise from a molecular disease of excitable membranes, and a chance to create a better future for children with epileptic encephalopathy. In a single cell, the channel reliably acts as a voltage-sensitive switch, ... Read more >>

Epilepsia (Epilepsia)
[2019, 60 Suppl 3:S8-S16]

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Trigeminal Autonomic Cephalalgias Manifested As The Only Initial Symptom Of Ehlers-Danlos Syndrome Type IV.

Mei-Jiao Chen, Hong-Fu Li, Shanying Mao,

Ehlers-Danlos syndrome (EDS) type IV is characterized by thin skin with visible veins, easy bruising, characteristic facial features, arterial and digestive complications, as well as rupture of the gravid uterus. It has never been previously reported that trigeminal autonomic cephalalgias (TACs) could manifest as the only initial symptom of EDS ... Read more >>

J Pain Res (Journal of Pain Research)
[2019, 12:3215-3220]

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SCN1A-related phenotypes: Epilepsy and beyond.

Ingrid E Scheffer, Rima Nabbout,

SCN1A, encoding the alpha 1 subunit of the sodium channel, is associated with several epilepsy syndromes and a range of other diseases. SCN1A represents the archetypal channelopathy associated with a wide phenotypic spectrum of epilepsies ranging from genetic epilepsy with febrile seizures plus (GEFS+), to developmental and epileptic encephalopathies (DEEs). ... Read more >>

Epilepsia (Epilepsia)
[2019, 60 Suppl 3:S17-S24]

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A causal role for TRESK loss of function in migraine mechanisms.

Philippa Pettingill, Greg A Weir, Tina Wei, Yukyee Wu, Grace Flower, Tatjana Lalic, Adam Handel, Galbha Duggal, Satyan Chintawar, Jonathan Cheung, Kanisa Arunasalam, Elizabeth Couper, Larisa M Haupt, Lyn R Griffiths, Andrew Bassett, Sally A Cowley, M Zameel Cader,

The two-pore potassium channel, TRESK has been implicated in nociception and pain disorders. We have for the first time investigated TRESK function in human nociceptive neurons using induced pluripotent stem cell-based models. Nociceptors from migraine patients with the F139WfsX2 mutation show loss of functional TRESK at the membrane, with a ... Read more >>

Brain (Brain : a journal of neurology)
[2019, 142(12):3852-3867]

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Genetic Factors of Nitric Oxide's System in Psychoneurologic Disorders.

Regina F Nasyrova, Polina V Moskaleva, Elena E Vaiman, Natalya A Shnayder, Nataliya L Blatt, Albert A Rizvanov,

[...]. ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(5):]

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Migraine Genetic Variants Influence Cerebral Blood Flow.

Maria J Knol, Elizabeth A Loehrer, Ke-Xin Wen, Daniel Bos, M Kamran Ikram, Meike W Vernooij, Hieab H H Adams, M Arfan Ikram,

OBJECTIVE:To investigate the association of migraine genetic variants with cerebral blood flow (CBF). BACKGROUND:Migraine is a common disorder with many genetic and non-genetic factors affecting its occurrence. The exact pathophysiological mechanisms underlying the disease remain unclear, but are known to involve hemodynamic and vascular disruptions. Recent genome-wide association studies have ... Read more >>

Headache (Headache)
[2020, 60(1):90-100]

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A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants.

Nicolas Chatron, Sara Cabet, Eudeline Alix, Annie Buenerd, Phillip Cox, Laurent Guibaud, Audrey Labalme, Peter Marks, Deborah Osio, Audrey Putoux, Damien Sanlaville, Gaetan Lesca, Alexandre Vasiljevic,

Polymicrogyria is a heterogeneous malformation of cortical development microscopically defined by an excessive folding of the cortical mantle resulting in small gyri with a fused surface. Polymicrogyria is responsible for a wide range of neurological symptoms (e.g. epilepsy, intellectual disability, motor dysfunction). Most cases have a supposed environmental clastic vascular ... Read more >>

Brain (Brain : a journal of neurology)
[2019, 142(11):3367-3374]

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Association between endothelial nitric oxide synthase (NOS3) rs2070744 and the risk for migraine.

Elena García-Martín, Santiago Navarro-Muñoz, Christopher Rodriguez, Mercedes Serrador, Hortensia Alonso-Navarro, Marisol Calleja, Laura Turpín-Fenoll, Marta Recio-Bermejo, Rafael García-Ruiz, Jorge Millán-Pascual, Francisco Navacerrada, José Francisco Plaza-Nieto, Esteban García-Albea, José A G Agúndez, Félix Javier Jiménez-Jiménez,

Because nitric oxide could play an important role in the pathogenesis of migraine (suggested by experimental, neuropathological, biochemical, and pharmacological data), and a recent meta-analysis showed an association between the single-nucleotide polymorphism (SNP) rs2070744 in the endothelial nitric oxide synthase (eNOS or NOS3) gene (chromosome 7q36.1) and the risk for ... Read more >>

Pharmacogenomics J. (The pharmacogenomics journal)
[2019, :]

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Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia-Related Genes.

C Anwar A Chahal, Mohammad N Salloum, Fares Alahdab, Joseph A Gottwald, David J Tester, Lucman A Anwer, Elson L So, Mohammad Hassan Murad, Erik K St Louis, Michael J Ackerman, Virend K Somers,

Background Sudden unexpected death in epilepsy (SUDEP) is the leading cause of epilepsy-related death. SUDEP shares many features with sudden cardiac death and sudden unexplained death in the young and may have a similar genetic contribution. We aim to systematically review the literature on the genetics of SUDEP. Methods and ... Read more >>

J Am Heart Assoc (Journal of the American Heart Association)
[2020, 9(1):e012264]

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