Cargando…

Association of SCN1A, SCN2A, and UGT2B7 Polymorphisms with Responsiveness to Valproic Acid in the Treatment of Epilepsy

PURPOSE: The efficacy of valproic acid (VPA) varies widely in clinical treatment of epileptic patients. Our study is aimed at exploring a potential association between polymorphisms of SCN1A, SCN2A, and UGT2B7 genetic factors and VPA responses. METHODS: In this observational study, a total of 114 ep...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lu, Yuan, Su, Quanping, Li, Ming, Dayimu, Alimu, Dai, Xiaoyu, Wang, Zhiheng, Che, Fengyuan, Xue, Fuzhong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2020
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7063186/ https://www.ncbi.nlm.nih.gov/pubmed/32185219 http://dx.doi.org/10.1155/2020/8096235

Ejemplares similares

Effects of GRM4, SCN2A and SCN3B polymorphisms on antiepileptic drugs responsiveness and epilepsy susceptibility
por: AL-Eitan, Laith N., et al.
Publicado: (2019)

Effects of SCN1A and SCN2A polymorphisms on responsiveness to valproic acid monotherapy in epileptic children: A protocol for systematic review and meta-analysis
por: Wen, Zhuangfei, et al.
Publicado: (2021)

Pharmacogenetics of uridine diphosphate glucuronosyltransferase (UGT2B7) genetic polymorphism on valproic acid pharmacokinetics in epilepsy
por: Munisamy, Murali, et al.
Publicado: (2014)

Comparison of oxcarbazepine efficacy and MHD concentrations relative to age and BMI: Associations among ABCB1, ABCC2, UGT2B7, and SCN2A polymorphisms
por: Yang, Xue, 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)

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)

Spectrum of SCN8A-Related Epilepsy
por: Morgan, Lindsey A., et al.
Publicado: (2015)

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)

Association between SCN1A polymorphism rs3812718 and valproic acid resistance in epilepsy children: a case–control study and meta-analysis
por: Wang, Zhi Jian, et al.
Publicado: (2018)

SCN2A-Related Epilepsy: The Phenotypic Spectrum, Treatment and Prognosis
por: Zeng, Qi, et al.
Publicado: (2022)

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

Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy
por: Yokoi, Takayuki, et al.
Publicado: (2018)

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

Epilepsy surgery in patient with monogenic epilepsy related to SCN8A mutation
por: Podkorytova, Irina, et al.
Publicado: (2022)

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)

SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features
por: Epifanio, Roberta, et al.
Publicado: (2021)

No association between SCN9A and monogenic human epilepsy disorders
por: Fasham, James, et al.
Publicado: (2020)

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

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

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

Resurgent and Gating Pore Currents Induced by De Novo SCN2A Epilepsy Mutations
por: Mason, Emily R., et al.
Publicado: (2019)

Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage?
por: Toldo, Irene, et al.
Publicado: (2011)

Influence of the SCN1A IVS5N + 5 G>A Polymorphism on Therapy with Carbamazepine for Epilepsy
por: Sterjev, Z, et al.
Publicado: (2012)

Clinical and Functional Features of Epilepsy-Associated In-Frame Deletion Variants in SCN1A
por: Wang, Jing-Yang, et al.
Publicado: (2022)

Neuropeptide Signaling Differentially Affects Phase Maintenance and Rhythm Generation in SCN and Extra-SCN Circadian Oscillators
por: Hughes, Alun T. L., et al.
Publicado: (2011)

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

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

Mitochondrial DNA analyses found five novel mutations in idiopathic epilepsy patients
por: You, Cuiping, et al.
Publicado: (2019)

Functional and pharmacological evaluation of a novel SCN2A variant linked to early‐onset epilepsy
por: Adney, Scott K., et al.
Publicado: (2020)

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)

Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review
por: Mangano, Giuseppe Donato, et al.
Publicado: (2022)

Genetic polymorphisms of SCN9A are associated with oxaliplatin-induced neuropathy
por: Sereno, María, et al.
Publicado: (2017)

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

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)

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

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

Heterozygous deletion of SCN2A and SCN3A in a patient with autism spectrum disorder and Tourette syndrome: a case report
por: Nickel, Kathrin, et al.
Publicado: (2018)

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)

Redetermination of the crystal structure of K(2)Hg(SCN)(4)
por: Bandemehr, Jascha, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_qapmj3jin6lv4homb04p9crj1t