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Polymorphisms of the sodium voltage-gated channel, alpha subunit 1 (SCN1A -A3184G) gene among children with non-lesional epilepsy: a case-control study. Italian journal of pediatrics 2022 Sep 48 (1): 157. Ghazala Esraa, Shahin Doaa A, Wahba Yah |
Analysis of clinical phenotypic and genotypic spectra in 36 children patients with Epilepsy of Infancy with Migrating Focal Seizures. Scientific reports 2022 Jun 12 (1): 10187. Yang Haiyan, Yang Xiaofan, Cai Fang, Gan Siyi, Yang Sai, Wu Liw |
Analysis of the Pathogenic Variants of Genes Using a Gene Panel in Turkish Epilepsy Patients. Clinical laboratory 2022 Jun 68 (6): . Gun-Bilgic Dilek, Polat Muzaff |
Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies. Neurology 2022 Jan . Brunklaus Andreas, Pérez-Palma Eduardo, Ghanty Ismael, Xinge Ji, Brilstra Eva, Ceulemans Berten, Chemaly Nicole, de Lange Iris, Depienne Christel, Guerrini Renzo, Mei Davide, Møller Rikke S, Nabbout Rima, Regan Brigid M, Schneider Amy L, Scheffer Ingrid E, Schoonjans An-Sofie, Symonds Joseph D, Weckhuysen Sarah, Kattan Michael W, Zuberi Sameer M, Lal Denn |
Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population. Annals of medicine 2022 12 54 (1): 1938-1951. Alghamdi Mansour A, Al-Eitan Laith N, Asiri Ashwag, Rababa'h Doaa M, Alqahtani Sultan A, Aldarami Mohammed S, Alsaeedi Manar A, Almuidh Raghad S, Alzahrani Abdulbari A, Sakah Ahmad H, El Nashar Eman Mohamad, Otaif Mansour Y, Abdel Ghaffar Nawal |
Genetic Analysis of Sodium Channel Genes in Pediatric Epilepsy Patients of Pakistan. Genetics research 2022 2022 1168703. Ashfaq Aqsa, Saleem Tayyaba, Sheikh Nadeem, Maqbool Haf |
Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes.
![]() Brain : a journal of neurology 2022 1 145 (2): 555-568. Skotte Line, Fadista João, Bybjerg-Grauholm Jonas, Appadurai Vivek, Hildebrand Michael S, Hansen Thomas F, Banasik Karina, Grove Jakob, Albiñana Clara, Geller Frank, Bjurström Carmen F, Vilhjálmsson Bjarni J, Coleman Matthew, Damiano John A, Burgess Rosemary, Scheffer Ingrid E, Pedersen Ole Birger Vesterager, Erikstrup Christian, Westergaard David, Nielsen Kaspar René, Sørensen Erik, Bruun Mie Topholm, Liu Xueping, Hjalgrim Henrik, Pers Tune H, Mortensen Preben Bo, Mors Ole, Nordentoft Merete, Dreier Julie W, Børglum Anders D, Christensen Jakob, Hougaard David M, Buil Alfonso, Hviid Anders, Melbye Mads, Ullum Henrik, Berkovic Samuel F, Werge Thomas, Feenstra Bjar |
Phenotypic spectrum of the SCN1A mutation (from febrile seizures to Dravet syndrome). Bratislavske lekarske listy 2022 123 (7): 483-486. Ceska Katarina, Danhofer Pavlina, Horak Ondrej, Spanelova Klara, Kolar Senad, Oslejskova Hana, Aulicka Stefan |
Response to Sodium Channel blocking Antiseizure medications and coding polymorphisms of Sodium Channel genes in Taiwanese epilepsy patients. BMC neurology 2021 Sep 21 (1): 367. Lin Chih-Hsiang, Ho Chen-Jui, Lu Yan-Ting, Tsai Meng-H |
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 |
Epilepsy with auditory features: Contribution of known genes in 112 patients. Seizure 2021 1 85 115-118. Bisulli F, Rinaldi C, Pippucci T, Minardi R, Baldassari S, Zenesini C, Mostacci B, Fanella M, Avoni P, Menghi V, Caporali L, Muccioli L, Tinuper P, Licchetta |
SCN1A IVS5N+5 G>A Polymorphism and Risk of Febrile Seizure and Epilepsy: A Systematic Review and Meta-Analysis. Frontiers in neurology 2021 1 11 581539. Hao Jindou, Liu Haiying, Ma Jiying, Liu Guosheng, Dong Guoqing, Liu Peihui, Xiao F |
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 |
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 |
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 |
Possible Genetic Determinants of Response to Phenytoin in a Group of Colombian Patients With Epilepsy. Frontiers in pharmacology 2020 11 555. Calderon-Ospina Carlos Alberto, Galvez Jubby Marcela, López-Cabra Claudia, Morales Natalia, Restrepo Carlos Martín, Rodríguez Jesús, Aristizábal-Gutiérrez Fabio Ancízar, Velez-van-Meerbeke Alberto, Laissue Paul, Fonseca-Mendoza Dora Jane |
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 |
[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 |
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 |
The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children. Frontiers in neurology 2019 10 505. Long Shasha, Zhou Hao, Li Shuang, Wang Tianqi, Ma Yu, Li Chunpei, Zhou Yuanfeng, Zhou Shuizhen, Wu Bingbing, Wang |
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 |
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 |
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 |
SCN1A rs3812718 polymorphism is associated with epilepsy: An updated meta-analysis. Epilepsy research 2018 Mar 142 81-87. Zhi Haiyang, Wu Changan, Yang Ziqi |
[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 |
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 |
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 |
The possible effect of SCN1A and SCN2A genetic variants on carbamazepine response among Khyber Pakhtunkhwa epileptic patients, Pakistan. Therapeutics and clinical risk management 2018 14 2305-2313. Nazish Haleema Rehana, Ali Niaz, Ullah Shak |
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 |
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 |
- Page last reviewed:Feb 1, 2023
- Page last updated:Feb 07, 2023
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