HuGE Literature Finder
Records 1-30
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Associations between CYP3A4, CYP3A5 and SCN1A polymorphisms and carbamazepine metabolism in epilepsy: A meta-analysis.
Epilepsy research 2021 Mar 173 106615. Zhao Gui-Xin, Zhang Zheng, Cai Wen-Ke, Shen Ming-Li, Wang Ping, He Gong-H |
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Effects of SCN1A and SCN2A polymorphisms on responsiveness to valproic acid monotherapy in epileptic children.
Epilepsy research 2020 Oct 168 106485. Liu Maochang, Mao Junjun, Xu Hua, Wang Jing, Zhao Peiwei, Xu Qiong, Du Zhaoso |
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Case-control association study of rare nonsynonymous variants of SCN1A and KCNQ2 in acute encephalopathy with biphasic seizures and late reduced diffusion.
Journal of the neurological sciences 2020 Apr 414 116808. Shibata Akiko, Kasai Mariko, Terashima Hiroshi, Hoshino Ai, Miyagawa Taku, Kikuchi Kenjiro, Ishii Atsushi, Matsumoto Hiroshi, Kubota Masaya, Hirose Shinichi, Oka Akira, Mizuguchi Masas |
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Modifier genes in SCN1A-related epilepsy syndromes.
Molecular genetics & genomic medicine 2020 Feb e1103. de Lange Iris M, Mulder Flip, van 't Slot Ruben, Sonsma Anja C M, van Kempen Marjan J A, Nijman Isaac J, Ernst Robert F, Knoers Nine V A M, Brilstra Eva H, Koeleman Bobby P |
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The lack of influence of IVS5-91 G>A polymorphism of the SCN1A gene on efficacy of lamotrigine in patients with focal epilepsy.
Neurological research 2019 Jun 1-6. Markovic Ivana, Pejanovic-Skobic Natasa, Bozina Nada, Susak Sporis Ivana, Sporis Davor, Basic Silv |
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[Association of single nucleotide polymorphisms of SCN1A gene with therapeutic effect of carbamazepine among ethnic Zhuang Chinese patients with epilepsy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 Mar 36 (3): 271-274. Huang Jianmin, Qian Zhe, Chen Haiyan, Huang Qing, Huang Ling, Liu Guojun, Tang Xiongl |
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SCN1A and SCN2A polymorphisms are associated with response to valproic acid in Chinese epilepsy patients.
European journal of clinical pharmacology 2019 Jan . Shi Lihong, Zhu Miaomiao, Li Huilan, Wen Zhipeng, Chen Xiaoping, Luo Jia, Lin Cong, Zhang Zanli |
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Association between SCN1A Polymorphism rs3812718 and Valproic Acid Resistance in Epilepsy Children: A Case Control Study and Meta-analysis.
Bioscience reports 2018 Nov . Wang Zhi Jian, Chen Jie, Chen Hai Liang, Zhang Lin Yan, Xu Duo, Jiang Wen Ti |
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Effects of UGT2B7, SCN1A and CYP3A4 on the therapeutic response of sodium valproate treatment in children with generalized seizures.
Seizure 2018 Apr 58 96-100. Feng Weixing, Mei Shenghui, Zhu Leting, Yu Yazhen, Yang Weili, Gao Baoqin, Wu Xiaojuan, Zhao Zhigang, Fang Fa |
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Association between two SCN1A polymorphisms and resistance to sodium channel blocking AEDs: a meta-analysis.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2018 Mar . Bao Yi, Liu Xinzhu, Xiao Zhe |
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SCN1A rs3812718 polymorphism is associated with epilepsy: An updated meta-analysis.
Epilepsy research 2018 Mar 142 81-87. Zhi Haiyang, Wu Changan, Yang Ziqi |
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[Association between SCN1A rs3812718 polymorphism and generalized epilepsy with febrile seizures plus].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2018 Feb 20 (2): 130-133. Ma Qi-Ling, Wang Bo, Chen Guang-Fu, Huang Jian-Lin, Li Yun, Cao De-Zhi, Liu Rong-Ti |
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Association between SCN1A gene polymorphisms and drug resistant epilepsy in pediatric patients.
Seizure 2018 Jan 55 30-35. Margari Lucia, Legrottaglie Anna R, Vincenti Alessandra, Coppola Giangennaro, Operto Francesca F, Buttiglione Maura, Cassano Amalia, Bartolomeo Nicola, Mariggiò Maria |
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Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies.
Genes, brain, and behavior 2018 Jan . Zhou Peng, He Na, Zhang Jing-Wen, Lin Zhi-Jian, Wang Jie, Yan Li-Min, Meng Heng, Tang Bin, Li Bing-Mei, Liu Xiao-Rong, Shi Yi-Wu, Zhai Qiong-Xiang, Yi Yong-Hong, Liao Wei-Pi |
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The association of SCN1A p.Thr1067Ala polymorphism with epilepsy risk and the response to antiepileptic drugs in Slovenian children and adolescents with epilepsy.
Seizure 2017 Oct 51 9-13. Bertok Sara, Dolžan Vita, Goricar Katja, Podkrajšek Katarina Trebušak, Battelino Tadej, Rener-Primec Zvon |
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Determination of SCN1A genetic variants in Mexican patients with refractory epilepsy and Dravet syndrome.
Genetics and molecular research : GMR 2017 May 16 (2): . Jiménez-Arredondo R E, Brambila-Tapia A J L, Mercado-Silva F M, Magaña-Torres M T, Figuera L |
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Association of SCN1A gene polymorphism with antiepileptic drug responsiveness in the population of Thrace, Greece.
Archives of medical science : AMS 2017 Feb 13 (1): 138-147. Angelopoulou Christina, Veletza Stavroula, Heliopoulos Ioannis, Vadikolias Konstantinos, Tripsianis Grigorios, Stathi Chrysa, Piperidou Charitome |
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Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.
Scientific reports 2017 Jan 7 40319. Wang Yimin, Du Xiaonan, Bin Rao, Yu Shanshan, Xia Zhezhi, Zheng Guo, Zhong Jianmin, Zhang Yunjian, Jiang Yong-Hui, Wang |
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Allele and genotype frequencies of genes relevant to anti-epileptic drug therapy in Mexican-Mestizo healthy volunteers.
Pharmacogenomics 2016 Oct . Fricke-Galindo Ingrid, Ortega-Vázquez Alberto, Monroy-Jaramillo Nancy, Dorado Pedro, Jung-Cook Helgi, Peñas-Lledó Eva, LLerena Adrián, López-López Maris |
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Cytokine-related and sodium channel polymorphism as candidate predisposing factors for childhood encephalopathy FIRES/AERRPS.
Journal of the neurological sciences 2016 Sep 368 272-6. Saitoh M, Kobayashi K, Ohmori I, Tanaka Y, Tanaka K, Inoue T, Horino A, Ohmura K, Kumakura A, Takei Y, Hirabayashi S, Kajimoto M, Uchida T, Yamazaki S, Shiihara T, Kumagai T, Kasai M, Terashima H, Kubota M, Mizuguchi |
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Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.
Molecular syndromology 2016 Sep 7 (4): 210-219. Møller Rikke S, Larsen Line H G, Johannesen Katrine M, Talvik Inga, Talvik Tiina, Vaher Ulvi, Miranda Maria J, Farooq Muhammad, Nielsen Jens E K, Svendsen Lene Lavard, Kjelgaard Ditte B, Linnet Karen M, Hao Qin, Uldall Peter, Frangu Mimoza, Tommerup Niels, Baig Shahid M, Abdullah Uzma, Born Alfred P, Gellert Pia, Nikanorova Marina, Olofsson Kern, Jepsen Birgit, Marjanovic Dragan, Al-Zehhawi Lana I K, Peñalva Sofia J, Krag-Olsen Bente, Brusgaard Klaus, Hjalgrim Helle, Rubboli Guido, Pal Deb K, Dahl Hans |
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The Clinical Spectrum of Female Epilepsy Patients with PCDH19 Mutations in a Chinese Population.
Clinical genetics 2016 Aug . Liu Aijie, Xu Xiaojing, Yang Xiaoling, Jiang Yuwu, Yang Zhixian, Liu Xiaoyan, Wu Ye, Wu Xiru, Wei Liping, Zhang Yueh |
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Diagnostic Yield of Epilepsy Panels in Children With Medication-Refractory Epilepsy.
Pediatric neurology 2016 Jul . Segal Eric, Pedro Helio, Valdez-Gonzalez Karen, Parisotto Sarah, Gliksman Felicia, Thompson Stephen, Sabri Jomard, Fertig Ev |
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The potential implication of SCN1A and CYP3A5 genetic variants on antiepileptic drug resistance among Egyptian epileptic children.
Seizure 2016 Jul 41 75-80. Abo El Fotoh Wafaa Moustafa M, Abd El Naby Sameh Abd Allah, Habib Mona Salah El-Din, ALrefai Abeer Ahmed, Kasemy Zeinab |
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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.
CNS neuroscience & therapeutics 2016 09 22 (9): 740-57. Baghel Ruchi, Grover Sandeep, Kaur Harpreet, Jajodia Ajay, Rawat Chitra, Srivastava Ankit, Kushwaha Suman, Agarwal Rachna, Sharma Sangeeta, Kukreti Ritushr |
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Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.
PloS one 2016 11 (3): e0150426. Lal Dennis, Reinthaler Eva M, Dejanovic Borislav, May Patrick, Thiele Holger, Lehesjoki Anna-Elina, Schwarz Günter, Riesch Erik, Ikram M Arfan, Duijn Cornelia M van, Uitterlinden Andre G, Hofman Albert, Steinböck Hannelore, Gruber-Sedlmayr Ursula, Neophytou Birgit, Zara Federico, Hahn Andreas, , , Gormley Padhraig, Becker Felicitas, Weber Yvonne G, Cilio Maria Roberta, Kunz Wolfram S, Krause Roland, Zimprich Fritz, Lemke Johannes R, Nürnberg Peter, Sander Thomas, Lerche Holger, Neubauer Bernd |
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The genetic variants in 3' untranslated region of voltage-gated sodium channel alpha 1 subunit gene affect the mRNA-microRNA interactions and associate with epilepsy.
BMC genetics 2016 17 (1): 111. Li Tian, Kuang Yaoyun, Li B |
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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.
Iranian journal of basic medical sciences 2015 Dec 18 (12): 1215-20. Namazi Soha, Azarpira Negar, Javidnia Katayoon, Emami Mehrdad, Rahjoo Rahimeh, Berahmand Razieh, Borhani-Haghighi Afsh |
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Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures.
Epilepsy research 2015 Aug 117 1-6. Saitoh Makiko, Ishii Atsushi, Ihara Yukiko, Hoshino Ai, Terashima Hiroshi, Kubota Masaya, Kikuchi Kenjiro, Yamanaka Gaku, Amemiya Kaoru, Hirose Shinichi, Mizuguchi Masas |
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Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients.
PloS one 2015 10 (11): e0142408. Daci Armond, Beretta Giangiacomo, Vllasaliu Driton, Shala Aida, Govori Valbona, Norata Giuseppe Danilo, Krasniqi Sha |
- Page last reviewed:Oct 1, 2020
- Page last updated:Apr 22, 2021
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