Cargando…

Analysis of Genetic Variants in SCN1A, SCN2A, KCNK18, TRPA1 and STX1A as a Possible Marker of Migraine

BACKGROUND: Migraine is a polygenetic disease, considered as a channelopathy. The dysregulation of ion functioning due to genetic changes may activate the trigeminovascular system and induce migraine attack both migraine with aura (MA) and without aura (MO). OBJECTIVES: The aim of the study was to a...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kowalska, Marta, Prendecki, Michał, Kapelusiak-Pielok, Magdalena, Grzelak, Teresa, Łagan-Jędrzejczyk, Urszula, Wiszniewska, Małgorzata, Kozubski, Wojciech, Dorszewska, Jolanta
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Bentham Science Publishers 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7521035/ https://www.ncbi.nlm.nih.gov/pubmed/33071616 http://dx.doi.org/10.2174/1389202921666200415181222

Ejemplares similares

The New *G29A and G1222A of HCRTR1, 5-HTTLPR of SLC6A4 Polymorphisms and Hypocretin-1, Serotonin Concentrations in Migraine Patients
por: Kowalska, Marta, et al.
Publicado: (2018)

Biothiols and oxidative stress markers and polymorphisms of TOMM40 and APOC1 genes in Alzheimer’s disease patients
por: Prendecki, Michal, et al.
Publicado: (2018)

Molecular factors in migraine
por: Kowalska, Marta, et al.
Publicado: (2016)

Migraine: Calcium Channels and Glia
por: Kowalska, Marta, et al.
Publicado: (2021)

Data on mutations and Clinical features in SCN1A or SCN2A gene
por: Kong, Yanting, et al.
Publicado: (2018)

Influence of common SCN1A promoter variants on the severity of SCN1A‐related phenotypes
por: de Lange, Iris M., et al.
Publicado: (2019)

Reduction of Kcnt1 is therapeutic in mouse models of SCN1A and SCN8A epilepsy
por: Hill, Sophie F., et al.
Publicado: (2023)

De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes
por: Jaber, Dana, et al.
Publicado: (2021)

Association Between SCN1A rs2298771, SCN1A rs10188577, SCN2A rs17183814, and SCN2A rs2304016 Polymorphisms and Responsiveness to Antiepileptic Drugs: A Meta-Analysis
por: Li, Mengmeng, et al.
Publicado: (2021)

Delayed maturation of GABAergic signaling in the Scn1a and Scn1b mouse models of Dravet Syndrome
por: Yuan, Yukun, et al.
Publicado: (2019)

Oxidative stress factors in Parkinson’s disease
por: Dorszewska, Jolanta, et al.
Publicado: (2020)

Molecular Effects of L-dopa Therapy in Parkinson’s Disease
por: Dorszewska, Jolanta, et al.
Publicado: (2014)

Characterization of maturation of neuronal voltage-gated sodium channels SCN1A and SCN8A in rat myocardium
por: Krause, Ulrich, et al.
Publicado: (2015)

SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients
por: Ricci, Maria Teresa, et al.
Publicado: (2014)

Identification of five novel SCN1A variants
por: Zeng, Baitao, et al.
Publicado: (2023)

Association of SCN1A, SCN2A, and UGT2B7 Polymorphisms with Responsiveness to Valproic Acid in the Treatment of Epilepsy
por: Lu, Yuan, et al.
Publicado: (2020)

Novel presentation of SCN5A nonsense mutation as SCN5A overlap syndrome
por: Ahn, Hyo-Jeong, et al.
Publicado: (2021)

SCN1B and SCN2B gene variants analysis in dravet syndrome patients: Analysis of 22 cases
por: Gong, Jiao-E., et al.
Publicado: (2019)

Modifier genes in SCN1A‐related epilepsy syndromes
por: de Lange, Iris M., et al.
Publicado: (2020)

Gaining Awareness of Increasingly Persistent SCN1A Mutations
por: Wong, Jennifer C.
Publicado: (2023)

SCN1A and SCN1B gene polymorphisms and their association with plasma concentrations of carbamazepine and carbamazepine 10, 11 epoxide in Iranian epileptic patients
por: Namazi, Soha, et al.
Publicado: (2015)

The possible effect of SCN1A and SCN2A genetic variants on carbamazepine response among Khyber Pakhtunkhwa epileptic patients, Pakistan
por: Nazish, Haleema Rehana, et al.
Publicado: (2018)

Hyperexcitable interneurons trigger cortical spreading depression in an Scn1a migraine model
por: Auffenberg, Eva, et al.
Publicado: (2021)

Painful and painless mutations of SCN9A and SCN11A voltage-gated sodium channels
por: Baker, Mark D., et al.
Publicado: (2020)

A Novel SCN1A Mutation: A Case Report
por: Aslan, Mahmut, et al.
Publicado: (2020)

A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy
por: Orlando, Valeria, et al.
Publicado: (2022)

Dravet syndrome: a new causative SCN1A mutation?
por: Poryo, Martin, et al.
Publicado: (2017)

Early-onset familial hemiplegic migraine due to a novel SCN1A mutation
por: Fan, Chunxiang, et al.
Publicado: (2016)

Melkersson–Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants?
por: Azzarà, Alessia, et al.
Publicado: (2023)

Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome
por: Lenk, Guy M., et al.
Publicado: (2020)

An enhancer cluster controls gene activity and topology of the SCN5A-SCN10A locus in vivo
por: Man, Joyce C. K., et al.
Publicado: (2019)

Pathogenic in-Frame Variants in SCN8A: Expanding the Genetic Landscape of SCN8A-Associated Disease
por: Wong, Jennifer C., et al.
Publicado: (2021)

Pitfalls in genetic testing: the story of missed SCN1A mutations
por: Djémié, Tania, et al.
Publicado: (2016)

Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations
por: Cho, Min Jung, et al.
Publicado: (2018)

Phenotypic and Genotypic Characteristics of SCN1A Associated Seizure Diseases
por: Chen, Chunhong, et al.
Publicado: (2022)

SCN1A-Related Epilepsy: Novel Mutations and Rare Phenotypes
por: Ma, Rui, et al.
Publicado: (2022)

Ictal vocalizations in the Scn1a (+/−) mouse model of Dravet syndrome
por: Anderson, Lyndsey L., et al.
Publicado: (2023)

Regulation of SCN3B/scn3b by Interleukin 2 (IL-2): IL-2 modulates SCN3B/scn3b transcript expression and increases sodium current in myocardial cells
por: Zhao, Yuanyuan, et al.
Publicado: (2016)

Polymorphism of the COMT, MAO, DAT, NET and 5-HTT Genes, and Biogenic Amines in Parkinson’s Disease
por: Dorszewska, Jolanta, et al.
Publicado: (2013)

Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series
por: Sahli, Maryem, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_a8hgsbirrcc0obfe55bsoh1h6l