HuGE Literature Finder
Records 1-7
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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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EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality.
Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jul . Bailey Julia N, Patterson Christopher, de Nijs Laurence, Durón Reyna M, Nguyen Viet-Huong, Tanaka Miyabi, Medina Marco T, Jara-Prado Aurelio, Martínez-Juárez Iris E, Ochoa Adriana, Molina Yolli, Suzuki Toshimitsu, Alonso María E, Wight Jenny E, Lin Yu-Chen, Guilhoto Laura, Targas Yacubian Elza Marcia, Machado-Salas Jesús, Daga Andrea, Yamakawa Kazuhiro, Grisar Thierry M, Lakaye Bernard, Delgado-Escueta Antonio |
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Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.
Epilepsia 2015 Feb 56 (2): 188-94. Subaran Ryan L, Conte Juliette M, Stewart William C L, Greenberg David |
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DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.
Epilepsia 2009 May 50 (5): 1184-90. Bai Dongsheng, Bailey Julia N, Durón Reyna M, Alonso María E, Medina Marco T, Martínez-Juárez Iris E, Suzuki Toshimitsu, Machado-Salas Jesús, Ramos-Ramírez Ricardo, Tanaka Miyabi, Ortega Ramón H Castro, López-Ruiz Minerva, Rasmussen Astrid, Ochoa Adriana, Jara-Prado Aurelio, Yamakawa Kazuhiro, Delgado-Escueta Antonio |
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Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy.
Epilepsy research 2006 Oct 71 (2-3): 129-34. Ma Shaochun, Blair Marcia A, Abou-Khalil Bassel, Lagrange Andre H, Gurnett Christina A, Hedera Pet |
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Exclusion of the juvenile myoclonic epilepsy gene EFHC1 as the cause of migraine on chromosome 6, but association to two rare polymorphisms in MEP1A and RHAG.
Neuroscience letters 2006 Mar 396 (2): 137-42. Norberg Anna, Forsgren Lars, Holmberg Dan, Holmberg Moni |
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Mutations in EFHC1 cause juvenile myoclonic epilepsy.
Nature genetics 2004 Aug 36 (8): 842-9. Suzuki Toshimitsu, Delgado-Escueta Antonio V, Aguan Kripamoy, Alonso Maria E, Shi Jun, Hara Yuji, Nishida Motohiro, Numata Tomohiro, Medina Marco T, Takeuchi Tamaki, Morita Ryoji, Bai Dongsheng, Ganesh Subramaniam, Sugimoto Yoshihisa, Inazawa Johji, Bailey Julia N, Ochoa Adriana, Jara-Prado Aurelio, Rasmussen Astrid, Ramos-Peek Jaime, Cordova Sergio, Rubio-Donnadieu Francisco, Inoue Yushi, Osawa Makiko, Kaneko Sunao, Oguni Hirokazu, Mori Yasuo, Yamakawa Kazuhi |
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- Page last updated:Apr 15, 2021
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