SCN1A基因中的一个功能性多态性与奥地利癫痫患者的卡马西平剂量无关。 - Suppr

A functional polymorphism in the SCN1A gene is not associated with carbamazepine dosages in Austrian patients with epilepsy.

作者信息

Zimprich Fritz, Stogmann Elisabeth, Bonelli Silvia, Baumgartner Christoph, Mueller Jakob C, Meitinger Thomas, Zimprich Alexander, Strom Tim M

出版信息

Epilepsia. 2008 Jun;49(6):1108-9. doi: 10.1111/j.1528-1167.2008.01549_4.x.

DOI:10.1111/j.1528-1167.2008.01549_4.x

PMID:18554361

Abstract

摘要

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A functional polymorphism in the SCN1A gene is not associated with carbamazepine dosages in Austrian patients with epilepsy.SCN1A基因中的一个功能性多态性与奥地利癫痫患者的卡马西平剂量无关。

Epilepsia. 2008 Jun;49(6):1108-9. doi: 10.1111/j.1528-1167.2008.01549_4.x.

Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin.抗癫痫药物卡马西平和苯妥英临床使用期间患者接受的最大剂量的遗传预测因素。

Proc Natl Acad Sci U S A. 2005 Apr 12;102(15):5507-12. doi: 10.1073/pnas.0407346102. Epub 2005 Apr 1.

Multidrug resistance in epilepsy and polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, and SCN3A: correlation among phenotype, genotype, and mRNA expression.癫痫中的多药耐药性以及电压门控钠通道基因SCN1A、SCN2A和SCN3A的多态性：表型、基因型与mRNA表达之间的相关性

Pharmacogenet Genomics. 2008 Nov;18(11):989-98. doi: 10.1097/FPC.0b013e3283117d67.

Association between SCN1A polymorphism and carbamazepine-resistant epilepsy.SCN1A基因多态性与卡马西平耐药性癫痫之间的关联。

Br J Clin Pharmacol. 2008 Aug;66(2):304-7. doi: 10.1111/j.1365-2125.2008.03203.x. Epub 2008 Apr 11.

A common polymorphism in the SCN1A gene associates with phenytoin serum levels at maintenance dose.SCN1A基因中的一种常见多态性与苯妥英维持剂量时的血清水平相关。

Pharmacogenet Genomics. 2006 Oct;16(10):721-6. doi: 10.1097/01.fpc.0000230114.41828.73.

Association of polymorphisms in EPHX1, UGT2B7, ABCB1, ABCC2, SCN1A and SCN2A genes with carbamazepine therapy optimization.EPHX1、UGT2B7、ABCB1、ABCC2、SCN1A 和 SCN2A 基因多态性与卡马西平治疗优化的关联。

Pharmacogenomics. 2012 Jan;13(2):159-69. doi: 10.2217/pgs.11.141. Epub 2011 Dec 21.

Epilepsy with a de novo missense mutation in the sodium channel a1 subunit: a case report.钠通道α1亚基新发错义突变所致癫痫：一例报告

Acta Paediatr. 2006 Dec;95(12):1703-6. doi: 10.1080/08035250600778628.

Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.与SCN1A相关的隐源性癫痫综合征：鉴定出12种新突变

Arch Neurol. 2008 Apr;65(4):489-94. doi: 10.1001/archneur.65.4.489.

The clinical impact of pharmacogenetics on the treatment of epilepsy.药物遗传学对癫痫治疗的临床影响。

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Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity.SCN1A中错义突变伴随的氨基酸残基的物理化学性质变化影响癫痫表型严重程度。

J Med Genet. 2009 Oct;46(10):671-9. doi: 10.1136/jmg.2008.060897. Epub 2009 Jul 7.

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Evaluating the Role of Genetic Variants on first-line antiepileptic drug response in North India: Significance of SCN1A and GABRA1 Gene Variants in Phenytoin Monotherapy and its Serum Drug Levels.评估基因变异在印度北部一线抗癫痫药物反应中的作用：SCN1A和GABRA1基因变异在苯妥英单药治疗及其血清药物水平中的意义。

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SCN1A and SCN1B gene polymorphisms and their association with plasma concentrations of carbamazepine and carbamazepine 10, 11 epoxide in Iranian epileptic patients.伊朗癫痫患者中SCN1A和SCN1B基因多态性及其与卡马西平和卡马西平10,11 - 环氧化物血浆浓度的关联

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PLoS One. 2015 Nov 10;10(11):e0142408. doi: 10.1371/journal.pone.0142408. eCollection 2015.

Genetic biomarkers in epilepsy.癫痫中的遗传生物标志物

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Influence of the SCN1A IVS5N + 5 G>A Polymorphism on Therapy with Carbamazepine for Epilepsy.SCN1A基因内含子5 N + 5 G>A多态性对卡马西平治疗癫痫的影响。

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Effects of SCN1A and GABA receptor genetic polymorphisms on carbamazepine tolerability and efficacy in Chinese patients with partial seizures: 2-year longitudinal clinical follow-up.SCN1A 和 GABA 受体遗传多态性对中国部分性发作患者卡马西平耐受性和疗效的影响：2 年纵向临床随访。

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A functional polymorphism in the SCN1A gene is not associated with carbamazepine dosages in Austrian patients with epilepsy.

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