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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Disease and EFHC1[original query]
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
Meta-analysis identifies seven susceptibility loci involved in the atopic march. GWAS Catalog
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
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
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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