Literature DB >> 21561445

A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy.

Ida Manna1, Antonio Gambardella, Amedeo Bianchi, Pasquale Striano, Rossana Tozzi, Umberto Aguglia, Francesca Beccaria, Paolo Benna, Roberto Campostrini, Maria P Canevini, Francesca Condino, Christine Durisotti, Maurizio Elia, Anna T Giallonardo, Alfonso Iudice, Angelo Labate, Angela La Neve, Roberto Michelucci, Gian C Muscas, Roberta Paravidino, Gaetano Zaccara, Claudio Zucca, Federico Zara, Emilio Perucca.   

Abstract

A splice site variation (c.603-91G>A or rs3812718) in the SCN1A gene has been claimed to influence efficacy and dose requirements of carbamazepine and phenytoin. We investigated the relationship between c.603-91G>A polymorphism and response to antiepileptic drugs (AEDs) in 482 patients with drug-resistant and 401 patients with drug-responsive focal epilepsy. Most commonly used AEDs were carbamazepine and oxcarbazepine. The distribution of c.603-91G>A genotypes was similar among drug-resistant and drug-responsive subjects, both in the entire population and in the groups treated with carbamazepine or oxcarbazepine. There was no association between the c.603-91G>A genotype and dosages of carbamazepine or oxcarbazepine. These findings rule out a major role of the SCN1A polymorphism as a determinant of AED response. Wiley Periodicals, Inc.
© 2011 International League Against Epilepsy.

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Year:  2011        PMID: 21561445     DOI: 10.1111/j.1528-1167.2011.03097.x

Source DB:  PubMed          Journal:  Epilepsia        ISSN: 0013-9580            Impact factor:   5.864


  10 in total

1.  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.

Authors:  Bo-Ting Zhou; Qiu-Hong Zhou; Ji-Ye Yin; Guo-Liang Li; Jian Qu; Xiao-Jing Xu; Ding Liu; Hong-Hao Zhou; Zhao-Qian Liu
Journal:  CNS Neurosci Ther       Date:  2012-05-17       Impact factor: 5.243

2.  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.

Authors:  Ruchi Baghel; Sandeep Grover; Harpreet Kaur; Ajay Jajodia; Chitra Rawat; Ankit Srivastava; Suman Kushwaha; Rachna Agarwal; Sangeeta Sharma; Ritushree Kukreti
Journal:  CNS Neurosci Ther       Date:  2016-06-01       Impact factor: 5.243

3.  Association between two SCN1A polymorphisms and resistance to sodium channel blocking AEDs: a meta-analysis.

Authors:  Yi Bao; Xinzhu Liu; Zheng Xiao
Journal:  Neurol Sci       Date:  2018-03-26       Impact factor: 3.307

4.  SCN1A and SCN2A polymorphisms are associated with response to valproic acid in Chinese epilepsy patients.

Authors:  Lihong Shi; Miaomiao Zhu; Huilan Li; Zhipeng Wen; Xiaoping Chen; Jia Luo; Cong Lin; Zanling Zhang
Journal:  Eur J Clin Pharmacol       Date:  2019-01-28       Impact factor: 2.953

5.  Influence of the SCN1A IVS5N + 5 G>A Polymorphism on Therapy with Carbamazepine for Epilepsy.

Authors:  Z Sterjev; G Kiteva; E Cvetkovska; I Petrov; I Kuzmanovski; Tj Ribarska; Ka Nestorovska; N Matevska; S Trajkovik-Jolevska; Aj Dimovski; Lj Suturkova
Journal:  Balkan J Med Genet       Date:  2012-06       Impact factor: 0.519

6.  Association of SCN1A gene polymorphism with antiepileptic drug responsiveness in the population of Thrace, Greece.

Authors:  Christina Angelopoulou; Stavroula Veletza; Ioannis Heliopoulos; Konstantinos Vadikolias; Grigorios Tripsianis; Chrysa Stathi; Charitomeni Piperidou
Journal:  Arch Med Sci       Date:  2016-05-05       Impact factor: 3.318

Review 7.  Relationship between ABCB1 3435TT genotype and antiepileptic drugs resistance in Epilepsy: updated systematic review and meta-analysis.

Authors:  Malek Chouchi; Wajih Kaabachi; Hedia Klaa; Kalthoum Tizaoui; Ilhem Ben-Youssef Turki; Lamia Hila
Journal:  BMC Neurol       Date:  2017-02-15       Impact factor: 2.474

8.  Genetic Analysis of Sodium Channel Genes in Pediatric Epilepsy Patients of Pakistan.

Authors:  Aqsa Ashfaq; Tayyaba Saleem; Nadeem Sheikh; Hafsa Maqbool
Journal:  Genet Res (Camb)       Date:  2022-01-29       Impact factor: 1.588

9.  Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients.

Authors:  Armond Daci; Giangiacomo Beretta; Driton Vllasaliu; Aida Shala; Valbona Govori; Giuseppe Danilo Norata; Shaip Krasniqi
Journal:  PLoS One       Date:  2015-11-10       Impact factor: 3.240

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

Authors:  Yuan Lu; Quanping Su; Ming Li; Alimu Dayimu; Xiaoyu Dai; Zhiheng Wang; Fengyuan Che; Fuzhong Xue
Journal:  Biomed Res Int       Date:  2020-02-25       Impact factor: 3.411

  10 in total

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