Human Genome Epidemiology Literature Finder
Records 1 - 28 (of 28 Records) |
Query Trace: CACNA1H[original query] |
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Association between genetic variation of CACNA1H and childhood absence epilepsy. Annals of neurology 2003 Aug 54 (2): 239-43. Chen Yucai, Lu Jianjun, Pan Hong, Zhang Yuehua, Wu Husheng, Xu Keming, Liu Xiaoyan, Jiang Yuwu, Bao Xinhua, Yao Zhijian, Ding Keyue, Lo Wilson H Y, Qiang Boqin, Chan Piu, Shen Yan, Wu Xi |
Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy. The Journal of biological chemistry 2004 1 279 (11): 9681-4. Khosravani Houman, Altier Christophe, Simms Brett, Hamming Kevin S, Snutch Terrance P, Mezeyova Janette, McRory John E, Zamponi Gerald |
CACNA1H mutations in autism spectrum disorders. The Journal of biological chemistry 2006 Aug 281 (31): 22085-91. Splawski Igor, Yoo Dana S, Stotz Stephanie C, Cherry Allison, Clapham David E, Keating Mark |
Common polymorphisms in the CACNA1H gene associated with childhood absence epilepsy in Chinese Han population. Annals of human genetics 2007 May 71 (Pt 3): 325-35. Liang J, Zhang Y, Chen Y, Wang J, Pan H, Wu H, Xu K, Liu X, Jiang Y, Shen Y, Wu |
Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants. Annals of neurology 2007 Dec 62 (6): 560-8. Heron Sarah E, Khosravani Houman, Varela Diego, Bladen Chris, Williams Tristiana C, Newman Michelle R, Scheffer Ingrid E, Berkovic Samuel F, Mulley John C, Zamponi Gerald |
A genome-wide association study of hypertension and blood pressure in African Americans.
PLoS genetics 2009 Jul 5 (7): e1000564. Adeyemo Adebowale, Gerry Norman, Chen Guanjie, Herbert Alan, Doumatey Ayo, Huang Hanxia, Zhou Jie, Lashley Kerrie, Chen Yuanxiu, Christman Michael, Rotimi Charl |
Genetic mapping of vascular calcified plaque loci on chromosome 16p in European Americans from the diabetes heart study. Annals of human genetics 2011 Mar 75 (2): 222-35. Lehtinen Allison B, Cox Amanda J, Ziegler Julie T, Voruganti V Saroja, Xu Jianzhao, Freedman Barry I, Carr J Jeffrey, Comuzzie Anthony G, Langefeld Carl D, Bowden Donald |
Association study between polymorphisms in the CACNA1A, CACNA1C, and CACNA1H genes and drug-resistant epilepsy in the Chinese Han population. Seizure 2015 Aug 30 64-9. Lv Nan, Qu Jian, Long Hongyu, Zhou Luo, Cao Yuze, Long Lili, Liu Zhaoqian, Xiao |
Variants in SELL, MRPS36P2, TP63, DDB2, CACNA1H, ADAM19, GNAI1, CDH13 and GABRG2 interact to confer risk of acne in Chinese population. The Journal of dermatology 2015 Apr 42 (4): 378-81. Wang HongYan, Guo MeiHua, Shen SongKe, He Li, Zhang XueJun, Zuo XianBo, Yang S |
Identification of genetic variants associated with susceptibility to West Nile virus neuroinvasive disease. Genes and immunity 2016 May . Long D, Deng X, Singh P, Loeb M, Lauring A S, Seielstad |
A common haplotype containing functional CACNA1H variants is frequently coinherited with increased TPSAB1 copy number. Genetics in medicine : official journal of the American College of Medical Genetics 2017 9 20 (5): 503-512. Lyons Jonathan J, Stotz Stephanie C, Chovanec Jack, Liu Yihui, Lewis Katie L, Nelson Celeste, DiMaggio Thomas, Jones Nina, Stone Kelly D, Sung Heejong, Biesecker Leslie G, Colicos Michael A, Milner Joshua |
Genetic modifiers of multiple sclerosis progression, severity and onset. Clinical immunology (Orlando, Fla.) 2017 May 180 100-105. Sadovnick A Dessa, Traboulsee Anthony L, Zhao Yinshan, Bernales Cecily Q, Encarnacion Mary, Ross Jay P, Yee Irene M, Criscuoli Maria G, Vilariño-Güell Carl |
Pharmacogenetics of antiepileptic drug efficacy in childhood absence epilepsy. Annals of neurology 2017 Mar 81 (3): 444-453. Glauser Tracy A, Holland Katherine, O'Brien Valerie P, Keddache Mehdi, Martin Lisa J, Clark Peggy O, Cnaan Avital, Dlugos Dennis, Hirtz Deborah G, Shinnar Shlomo, Grabowski Gregory, |
Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes. Neurogenetics 2018 6 19 (3): 165-178. Landoulsi Zied, Laatar Fatma, Noé Eric, Mrabet Saloua, Ben Djebara Mouna, Achaz Guillaume, Nava Caroline, Baulac Stéphanie, Kacem Imen, Gargouri-Berrechid Amina, Gouider Riadh, Leguern Er |
Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes. PloS one 2018 13 (6): e0199321. Lee Cha Gon, Lee Jeehun, Lee Munhya |
Functional variants in HCN4 and CACNA1H may contribute to genetic generalized epilepsy. Epilepsia open 2017 09 2 (3): 334-342. Becker Felicitas, Reid Christopher A, Hallmann Kerstin, Tae Han-Shen, Phillips A Marie, Teodorescu Georgeta, Weber Yvonne G, Kleefuss-Lie Ailing, Elger Christian, Perez-Reyes Edward, Petrou Steven, Kunz Wolfram S, Lerche Holger, Maljevic Sneza |
Copy number variation in fetal alcohol spectrum disorder. Biochemistry and cell biology = Biochimie et biologie cellulaire 2018 Mar 1-6. Zarrei Mehdi, Hicks Geoffrey G, Reynolds James N, Thiruvahindrapuram Bhooma, Engchuan Worrawat, Pind Molly, Lamoureux Sylvia, Wei John, Wang Zhouzhi, Marshall Christian R, Wintle Richard F, Chudley Albert E, Scherer Stephen |
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 |
Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy. Channels (Austin, Tex.) 2019 Dec 13 (1): 153-161. Carter Melissa T, McMillan Hugh J, Tomin Andriy, Weiss Norbe |
Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort. Autism research : official journal of the International Society for Autism Research 2019 Nov . da Silva Montenegro Eduarda Morgana, Costa Claudia Samogy, Campos Gabriele, Scliar Marília, de Almeida Tatiana Ferreira, Zachi Elaine Cristina, Silva Isabela Maya Wahys, Chan Ada J S, Zarrei Mehdi, Lourenço Naila C V, Yamamoto Guilherme Lopes, Scherer Stephen, Passos-Bueno Maria Ri |
Genomic analysis of 21 patients with corneal neuralgia after refractive surgery. Pain reports 0 5 (4): e826. Yuan Jun-Hui, Schulman Betsy R, Effraim Philip R, Sulayman Dib-Hajj, Jacobs Deborah S, Waxman Stephen |
A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Ca3.2?T-type channel activity. Molecular brain 2020 3 13 (1): 33. Stringer Robin N, Jurkovicova-Tarabova Bohumila, Huang Sun, Haji-Ghassemi Omid, Idoux Romane, Liashenko Anna, Souza Ivana A, Rzhepetskyy Yuriy, Lacinova Lubica, Van Petegem Filip, Zamponi Gerald W, Pamphlett Roger, Weiss Norbe |
Whole exome and transcriptome sequencing reveal clonal evolution and exhibit immune-related features in metastatic colorectal tumors. Cell death discovery 2021 8 7 (1): 222. Li Chunxue, Xu Juan, Wang Xiangfeng, Zhang Chao, Yu Zicheng, Liu Jiucheng, Tai Zaixian, Luo Ziwen, Yi Xin, Zhong Zhaoya |
The prognosis of epilepsy patients with CACNA1H missense variants: A longitudinal cohort study. Seizure 2021 May 91 52-59. Wei Zihan, Liu Chao, Wu Zhenyu, Cao Mi, Qiao Xiaozhi, Han Tenghui, Zhang Ying, Liu Yonghong, Deng Yanch |
Contribution of rare genetic variants to drug response in absence epilepsy. Epilepsy research 2021 Jan 170 106537. Myers Kenneth A, Bennett Mark F, Grinton Bronwyn E, Dabscheck Gabriel, Chan Eunice K, Bello-Espinosa Luis E, Sadleir Lynette G, D'Alfonso Sabrina, Schneider Amy L, Damiano John A, Hildebrand Michael S, Bahlo Melanie, Berkovic Samuel F, Buchhalter Jeffrey, Scheffer Ingrid |
Genetic screening of hypertensive patients with aldosterone hypersecretion under conditions of stress. Hormones (Athens, Greece) 2022 Aug . Mourtzi Niki, Sertedaki Amalia, Markou Athina, Piaditis George P, Katsanis Nicholas, Traeger-Synodinos Joanne, Tsigos Constantine, Charmandari Evangel |
Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder. Translational psychiatry 2022 Jun 12 (1): 234. Teles E Silva André Luíz, Glaser Talita, Griesi-Oliveira Karina, Corrêa-Velloso Juliana, Wang Jaqueline Yu Ting, da Silva Campos Gabriele, Ulrich Henning, Balan Andrea, Zarrei Mehdi, Higginbotham Edward J, Scherer Stephen W, Passos-Bueno Maria Rita, Sertié Andrea Laura |
Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes. Molecular neurobiology 2023 2 . Maksemous Neven, Harder Aster V E, Ibrahim Omar, Vijfhuizen Lisanne S, Sutherland Heidi, Pelzer Nadine, de Boer Irene, Terwindt Gisela M, Lea Rodney A, van den Maagdenberg Arn M J M, Griffiths Lyn |
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- Page last updated:Apr 22, 2024
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