Human Genome Epidemiology Literature Finder
Records 1 - 12 (of 12 Records) |
Query Trace: CLCN2[original query] |
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Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes. Neurogenetics 2006 Nov 7 (4): 265-8. Stogmann E, Lichtner P, Baumgartner C, Schmied M, Hotzy C, Asmus F, Leutmezer F, Bonelli S, Assem-Hilger E, Vass K, Hatala K, Strom T M, Meitinger T, Zimprich F, Zimprich |
Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. Human mutation 2009 Mar 30 (3): 397-405. Saint-Martin Cécile, Gauvain Grégory, Teodorescu Georgeta, Gourfinkel-An Isabelle, Fedirko Estelle, Weber Yvonne G, Maljevic Snezana, Ernst Jan-Peter, Garcia-Olivares Jennie, Fahlke Christoph, Nabbout Rima, LeGuern Eric, Lerche Holger, Poncer Jean Christophe, Depienne Christ |
Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy. Brain research bulletin 2009 Apr 79 (2): 89-96. Combi Romina, Grioni Daniele, Contri Margherita, Redaelli Serena, Redaelli Francesca, Bassi Maria Teresa, Barisani Donatella, Lavitrano Maria Luisa, Tredici Giovanni, Tenchini Maria Luisa, Bertolini Mario, Dalprà Le |
Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy. Neurology 2013 Mar 80 (12): 1078-85. Chen Tim T, Klassen Tara L, Goldman Alica M, Marini Carla, Guerrini Renzo, Noebels Jeffrey |
Evaluation of Gene-Based Family-Based Methods to Detect Novel Genes Associated With Familial Late Onset Alzheimer Disease. Frontiers in neuroscience 2018 4 12 209. Fernández Maria V, Budde John, Del-Aguila Jorge L, Ibañez Laura, Deming Yuetiva, Harari Oscar, Norton Joanne, Morris John C, Goate Alison M, , , Cruchaga Carl |
A somatic mutation in CLCN2 identified in a sporadic aldosterone-producing adenoma. European journal of endocrinology 2019 9 181 (5): K37-K41. Dutta Ravi Kumar, Arnesen Thomas, Heie Anette, Walz Martin, Alesina Piero, Söderkvist Peter, Gimm Oliv |
Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy. Genetics in medicine : official journal of the American College of Medical Genetics 2019 5 21 (11): 2496-2503. Heyne Henrike O, Artomov Mykyta, Battke Florian, Bianchini Claudia, Smith Douglas R, Liebmann Nora, Tadigotla Vasisht, Stanley Christine M, Lal Dennis, Rehm Heidi, Lerche Holger, Daly Mark J, Helbig Ingo, Biskup Saskia, Weber Yvonne G, Lemke Johannes |
De novo SCN1A, SCN8A, and CLCN2 mutations in childhood absence epilepsy. Epilepsy research 2019 5 154 55-61. Xie Han, Su Wenting, Pei Jinrui, Zhang Yujia, Gao Kai, Li Jinliang, Ma Xiuwei, Zhang Yuehua, Wu Xiru, Jiang Yu |
A Rare Novel CLCN2 Variation and Risk of Gilles de la Tourette Syndrome: Whole-Exome Sequencing in a Multiplex Family and a Follow-Up Study in a Chinese Population. Frontiers in psychiatry 2020 12 11 543911. Yuan Aihua, Wang Zengge, Xu Wen, Ding Qiang, Zhao Ying, Han Jingjing, Sun Jinh |
Evaluation of candidate genes in a Chinese cohort of atypical Rolandic epilepsy. Epileptic disorders : international epilepsy journal with videotape 2021 Jul . Hu Xiaoyue, Tang Jihong, Hua Ying, Wang Yanping, Huang Ji |
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 |
Two Different Copy Number Variations of the CLCN2 Gene in Chinese Cattle and Their Association with Growth Traits. Animals : an open access journal from MDPI 2022 1 12 (1): . Tang Jia, Shen Xuemei, Yang Yu, Yang Haiyan, Qi Ao, Yang Shuling, Qu Kaixing, Lan Xianyong, Huang Bizhi, Chen Ho |
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- Page last updated:Apr 22, 2024
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