Human Genome Epidemiology Literature Finder
Records 1 - 13 (of 13 Records) |
Query Trace: EFHC1[original query] |
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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 |
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 |
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 |
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 |
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 |
Meta-analysis identifies seven susceptibility loci involved in the atopic march.
Nature communications 2015 6 8804. Marenholz Ingo, Esparza-Gordillo Jorge, Rüschendorf Franz, Bauerfeind Anja, Strachan David P, Spycher Ben D, Baurecht Hansjörg, Margaritte-Jeannin Patricia, Sääf Annika, Kerkhof Marjan, Ege Markus, Baltic Svetlana, Matheson Melanie C, Li Jin, Michel Sven, Ang Wei Q, McArdle Wendy, Arnold Andreas, Homuth Georg, Demenais Florence, Bouzigon Emmanuelle, Söderhäll Cilla, Pershagen Göran, de Jongste Johan C, Postma Dirkje S, Braun-Fahrländer Charlotte, Horak Elisabeth, Ogorodova Ludmila M, Puzyrev Valery P, Bragina Elena Yu, Hudson Thomas J, Morin Charles, Duffy David L, Marks Guy B, Robertson Colin F, Montgomery Grant W, Musk Bill, Thompson Philip J, Martin Nicholas G, James Alan, Sleiman Patrick, Toskala Elina, Rodriguez Elke, Fölster-Holst Regina, Franke Andre, Lieb Wolfgang, Gieger Christian, Heinzmann Andrea, Rietschel Ernst, Keil Thomas, Cichon Sven, Nöthen Markus M, Pennell Craig E, Sly Peter D, Schmidt Carsten O, Matanovic Anja, Schneider Valentin, Heinig Matthias, Hübner Norbert, Holt Patrick G, Lau Susanne, Kabesch Michael, Weidinger Stefan, Hakonarson Hakon, Ferreira Manuel A R, Laprise Catherine, Freidin Maxim B, Genuneit Jon, Koppelman Gerard H, Melén Erik, Dizier Marie-Hélène, Henderson A John, Lee Young |
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 |
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 |
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 |
Revisiting the clinical impact of variants in EFHC1 in patients with different phenotypes of genetic generalized epilepsy. Epilepsy & behavior : E&B 2020 11 112 107469. Gonsales Marina C, Ribeiro Patrícia A O, Betting Luiz E, Alvim Marina K M, Guerreiro Carlos M, Yasuda Clarissa L, Gitaí Daniel L G, Cendes Fernando, Lopes-Cendes Isc |
Mutational Analysis of Myoclonin1 Gene in Pakistani Juvenile Myoclonic Epilepsy Patients. BioMed research international 2021 5 2021 7509825. Saleem Tayyaba, Mustafa Arooj, Sheikh Nadeem, Mukhtar Maryam, Irfan Mavra, Suqaina Saira Kain |
Coexistence of temporal lobe epilepsy and idiopathic generalized epilepsy. Epilepsy & behavior : E&B 2023 12 151 109602. Ali A Asadi-Pooya, Mahdi Malekpour, Ehsan Taherifard, Arashk Mallahzadeh, Mohsen Farjoud Kouhanja |
EFHC1 gene mutation profile of Turkish JME patients and its association with disease risk. Seizure 2023 12 114 79-83. Kezban Aslan-Kara, Ebru Dündar-Yenilmez, Elçin Ate?, Mustafa Muhlis Alparslan, Taylan Peköz, Hacer Bozdemir, Abdullah Tu |
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