Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 42 Records) |
Query Trace: SCN1B[original query] |
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Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. Epilepsy research 2012 Dec 102 (3): 195-200. Wang Ji-wen, Shi Xiu-yu, Kurahashi Hirokazu, Hwang Su-Kyeong, Ishii Atsushi, Higurashi Norimichi, Kaneko Sunao, Hirose Shinichi, |
Do mutations in SCN1B cause Dravet syndrome? Epilepsy research 2012 Nov . Kim YO, Dibbens L, Marini C, Suls A, Chemaly N, Mei D, McMahon JM, Iona X, Berkovic SF, De Jonghe P, Guerrini R, Nabbout R, Scheffer IE |
Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
American journal of human genetics 2012 Oct 91 (4): 744-53. Franceschini Nora, van Rooij Frank J A, Prins Bram P, Feitosa Mary F, Karakas Mahir, Eckfeldt John H, Folsom Aaron R, Kopp Jeffrey, Vaez Ahmad, Andrews Jeanette S, Baumert Jens, Boraska Vesna, Broer Linda, Hayward Caroline, Ngwa Julius S, Okada Yukinori, Polasek Ozren, Westra Harm-Jan, Wang Ying A, Del Greco M Fabiola, Glazer Nicole L, Kapur Karen, Kema Ido P, Lopez Lorna M, Schillert Arne, Smith Albert V, Winkler Cheryl A, Zgaga Lina, , Bandinelli Stefania, Bergmann Sven, Boban Mladen, Bochud Murielle, Chen Y D, Davies Gail, Dehghan Abbas, Ding Jingzhong, Doering Angela, Durda J Peter, Ferrucci Luigi, Franco Oscar H, Franke Lude, Gunjaca Grog, Hofman Albert, Hsu Fang-Chi, Kolcic Ivana, Kraja Aldi, Kubo Michiaki, Lackner Karl J, Launer Lenore, Loehr Laura R, Li Guo, Meisinger Christa, Nakamura Yusuke, Schwienbacher Christine, Starr John M, Takahashi Atsushi, Torlak Vesela, Uitterlinden André G, Vitart Veronique, Waldenberger Melanie, Wild Philipp S, Kirin Mirna, Zeller Tanja, Zemunik Tatijana, Zhang Qunyuan, Ziegler Andreas, Blankenberg Stefan, Boerwinkle Eric, Borecki Ingrid B, Campbell Harry, Deary Ian J, Frayling Timothy M, Gieger Christian, Harris Tamara B, Hicks Andrew A, Koenig Wolfgang, O' Donnell Christopher J, Fox Caroline S, Pramstaller Peter P, Psaty Bruce M, Reiner Alex P, Rotter Jerome I, Rudan Igor, Snieder Harold, Tanaka Toshihiro, van Duijn Cornelia M, Vollenweider Peter, Waeber Gerard, Wilson James F, Witteman Jacqueline C M, Wolffenbuttel Bruce H R, Wright Alan F, Wu Qingyu, Liu Yongmei, Jenny Nancy S, North Kari E, Felix Janine F, Alizadeh Behrooz Z, Cupples L Adrienne, Perry John R B, Morris Andrew |
Sodium current and potassium transient outward current genes in Brugada syndrome: screening and bioinformatics. The Canadian journal of cardiology 0 28 (2): 196-200. Holst Anders G, Saber Siamak, Houshmand Massoud, Zaklyazminskaya Elena V, Wang Yinman, Jensen Henrik Kjærulf, Refsgaard Lena, Haunsø Stig, Svendsen Jesper Hastrup, Olesen Morten S, Tfelt-Hansen Jac |
Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy. Human genetics 2014 May 133 (5): 651-9. Baum Larry, Haerian Batoul Sadat, Ng Ho-Keung, Wong Virginia C N, Ng Ping Wing, Lui Colin H T, Sin Ngai Chuen, Zhang Chunbo, Tomlinson Brian, Wong Gary Wing-Kin, Tan Hui Jan, Raymond Azman Ali, Mohamed Zahurin, Kwan Patri |
SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients. Scientific reports 2014 4 6470. Ricci Maria Teresa, Menegon Silvia, Vatrano Simona, Mandrile Giorgia, Cerrato Natascia, Carvalho Paula, De Marchi Mario, Gaita Fiorenzo, Giustetto Carla, Giachino Daniela Frances |
Is sudden unexplained nocturnal death syndrome in Southern China a cardiac sodium channel dysfunction disorder? Forensic science international 2014 Mar 236 38-45. Liu Chao, Tester David J, Hou Yiding, Wang Wen, Lv Guoli, Ackerman Michael J, Makielski Jonathan C, Cheng Jiandi |
Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome. PloS one 2015 10 (7): e0133037. Allegue Catarina, Coll Mònica, Mates Jesus, Campuzano Oscar, Iglesias Anna, Sobrino Beatriz, Brion Maria, Amigo Jorge, Carracedo Angel, Brugada Pedro, Brugada Josep, Brugada Ram |
Functional Characterization of Rare Variants Implicated in Susceptibility to Lone Atrial Fibrillation. Circulation. Arrhythmia and electrophysiology 2015 Jun . Hayashi Kenshi, Konno Tetsuo, Tada Hayato, Tani Satoyuki, Liu Li, Fujino Noboru, Nohara Atsushi, Hodatsu Akihiko, Tsuda Toyonobu, Tanaka Yoshihiro, Kawashiri Masa-Aki, Ino Hidekazu, Makita Naomasa, Yamagishi Masaka |
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 |
Does Sudden Unexplained Nocturnal Death Syndrome Remain the Autopsy-Negative Disorder: A Gross, Microscopic, and Molecular Autopsy Investigation in Southern China. Mayo Clinic proceedings 2016 Oct . Zhang Liyong, Tester David J, Lang Di, Chen Yili, Zheng Jinxiang, Gao Rui, Corliss Robert F, Tang Shuangbo, Kyle John W, Liu Chao, Ackerman Michael J, Makielski Jonathan C, Cheng Jiandi |
Rare variants in genes encoding the cardiac sodium channel and associated compounds and their impact on outcome of catheter ablation of atrial fibrillation. PloS one 2017 8 12 (8): e0183690. Husser Daniela, Ueberham Laura, Hindricks Gerhard, Büttner Petra, Ingram Christie, Weeke Peter, Shoemaker M Benjamin, Adams Volker, Arya Arash, Sommer Philipp, Darbar Dawood, Roden Dan M, Bollmann Andre |
Exonic mutations in SCN9A (NaV1.7) are found in a minority of patients with erythromelalgia. Scandinavian journal of pain 2018 6 5 (4): 217-225. Zhang Zhiping, Schmelz Martin, Segerdahl Märta, Quiding Hans, Centerholt Carina, Juréus Anna, Carr Thomas Hedley, Whiteley Jessica, Salter Hugh, Kvernebo Mari Skylstad, Ørstavik Kristin, Helås Tormod, Kleggetveit Inge-Petter, Lunden Lars Kristian, Jørum Ell |
Preserved SCN4B expression is an independent indicator of favorable recurrence-free survival in classical papillary thyroid cancer. PloS one 2018 13 (5): e0197007. Gong Yanping, Yang Jing, Wu Wenshuang, Liu Feng, Su Anping, Li Zhihui, Zhu Jingqiang, Wei T |
A Novel PITX2c Gain-of-Function Mutation, p.Met207Val, in Patients With Familial Atrial Fibrillation. The American journal of cardiology 2018 12 123 (5): 787-793. Mechakra Asma, Footz Tim, Walter Michael, Aránega Amelia, Hernández-Torres Francisco, Morel Elodie, Millat Gilles, Yang Yi-Qing, Chahine Mohamed, Chevalier Philippe, Christé Georg |
SCN1B and SCN2B gene variants analysis in dravet syndrome patients: Analysis of 22 cases. Medicine 2019 3 98 (13): e14974. Gong Jiao-E, Liao Hong-Mei, Long Hong-Yu, Li Xiang-Min, Long Li-Li, Zhou Luo, Gu Wen-Ping, Lu Shao-Hua, Qu Qiang, Yang Li-Min, Xiao Bo, Qu Ji |
Significant association of rare variant p.Gly8Ser in cardiac sodium channel ?4-subunit SCN4B with atrial fibrillation. Annals of human genetics 2019 3 83 (4): 239-248. Xiong Hongbo, Yang Qin, Zhang Xiaoping, Wang Pengxia, Chen Feifei, Liu Ying, Wang Pengyun, Zhao Yuanyuan, Li Sisi, Huang Yufeng, Chen Shanshan, Wang Xiaojing, Zhang Hongfu, Yu Dong, Tan Chencheng, Fang Cheng, Huang Yuan, Wu Gang, Wu Yanxia, Cheng Xiang, Liao Yuhua, Zhang Rongfeng, Yang Yanzong, Ke Tie, Ren Xiang, Li Hui, Tu Xin, Xia Yunlong, Xu Chengqi, Chen Qiuyun, Wang Qing |
Studying Brugada Syndrome With an SCN1B Variants in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes. Frontiers in cell and developmental biology 2019 11 7 261. El-Battrawy Ibrahim, Müller Jonas, Zhao Zhihan, Cyganek Lukas, Zhong Rujia, Zhang Feng, Kleinsorge Mandy, Lan Huan, Li Xin, Xu Qiang, Huang Mengying, Liao Zhenxing, Moscu-Gregor Alexander, Albers Sebastian, Dinkel Hendrik, Lang Siegfried, Diecke Sebastian, Zimmermann Wolfram-Hubertus, Utikal Jochen, Wieland Thomas, Borggrefe Martin, Zhou Xiaobo, Akin Ibrah |
Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia. Biomedicines 2020 5 8 (5): . Maksemous Neven, Sutherland Heidi G, Smith Robert A, Haupt Larisa M, Griffiths Lyn |
Functional informed genome-wide interaction analysis of body mass index, diabetes and colorectal cancer risk. Cancer medicine 2020 3 9 (10): 3563-3573. Xia Zhiyu, Su Yu-Ru, Petersen Paneen, Qi Lihong, Kim Andre E, Figueiredo Jane C, Lin Yi, Nan Hongmei, Sakoda Lori C, Albanes Demetrius, Berndt Sonja I, Bézieau Stéphane, Bien Stephanie, Buchanan Daniel D, Casey Graham, Chan Andrew T, Conti David V, Drew David A, Gallinger Steven J, Gauderman W James, Giles Graham G, Gruber Stephen B, Gunter Marc J, Hoffmeister Michael, Jenkins Mark A, Joshi Amit D, Le Marchand Loic, Lewinger Juan P, Li Li, Lindor Noralane M, Moreno Victor, Murphy Neil, Nassir Rami, Newcomb Polly A, Ogino Shuji, Rennert Gad, Song Mingyang, Wang Xiaoliang, Wolk Alicja, Woods Michael O, Brenner Hermann, White Emily, Slattery Martha L, Giovannucci Edward L, Chang-Claude Jenny, Pharoah Paul D P, Hsu Li, Campbell Peter T, Peters Ulri |
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 |
Frequency of Irritable Bowel Syndrome in Patients with Brugada Syndrome and Drug-Induced Type 1 Brugada Pattern. The American journal of cardiology 2021 5 151 51-56. Sarica Anil S, Bor Serhat, Orman Mehmet N, Barajas-Martinez Hector, Juang Jyh-Ming Jimmy, Antzelevitch Charles, Hasdemir C |
Pathogenesis and drug response of iPSC-derived cardiomyocytes from two Brugada syndrome patients with different Na 1.5-subunit mutations. Journal of biomedical research 2021 10 35 (5): 395-407. Zhu Yue, Wang Linlin, Cui Chang, Qin Huiyuan, Chen Hongwu, Chen Shaojie, Lin Yongping, Cheng Hongyi, Jiang Xiaohong, Chen Minglo |
Clinical and genetic study of developmental and epileptic encephalopathy in Argentinean pediatric patients. Medicina 2022 12 82 (6): 856-865. Juanes Matías, Loos Mariana, Reyes Gabriela, Veneruzzo Gabriel, García Francisco Martín, Aschettino Giovanna, Calligaris Silvana, Martín María Eugenia, Foncuberta María Eugenia, Alonso Cristina N, Caraballo Roberto |
Peripheral Ion Channel Genes Screening in Painful Small Fiber Neuropathy. International journal of molecular sciences 2022 11 23 (22): . ?l?czkowska Milena, Almomani Rowida, Marchi Margherita, Salvi Erika, de Greef Bianca T A, Sopacua Maurice, Hoeijmakers Janneke G J, Lindsey Patrick, Waxman Stephen G, Lauria Giuseppe, Faber Catharina G, Smeets Hubert J M, Gerrits Monique |
Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique. Balkan medical journal 2022 11 40 (1): 13-20. Atl? Engin, Gürkan Hakan, Güldiken Babürhan, Eker Damla, Yalç?ntepe Sinem, Demir Selma, Atl? Emine ?kb |
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 |
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 |
Impact of rs1805127 and rs55742440 Variants on Atrial Remodeling in Hypertrophic Cardiomyopathy Patients with Atrial Fibrillation: A Romanian Cohort Study. International journal of molecular sciences 2023 12 24 (24): . Nicoleta-Monica Popa-Fotea, Nicoleta Oprescu, Alexandru Scafa-Udriste, Miruna Mihaela Mich |
Identification of potential disease-associated variants in idiopathic generalized epilepsy using targeted sequencing. Journal of human genetics 2023 11 . Regina Gamirova, Elena Shagimardanova, Takehiro Sato, Takayuki Kannon, Rimma Gamirova, Atsushi Taji |
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