Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: Epilepsy and PNPO[original query] |
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Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
Human molecular genetics 2012 Dec 21 (24): 5359-72. , , Steffens Michael, Leu Costin, Ruppert Ann-Kathrin, Zara Federico, Striano Pasquale, Robbiano Angela, Capovilla Giuseppe, Tinuper Paolo, Gambardella Antonio, Bianchi Amedeo, La Neve Angela, Crichiutti Giovanni, de Kovel Carolien G F, Kasteleijn-Nolst Trenité Dorothée, de Haan Gerrit-Jan, Lindhout Dick, Gaus Verena, Schmitz Bettina, Janz Dieter, Weber Yvonne G, Becker Felicitas, Lerche Holger, Steinhoff Bernhard J, Kleefuß-Lie Ailing A, Kunz Wolfram S, Surges Rainer, Elger Christian E, Muhle Hiltrud, von Spiczak Sarah, Ostertag Philipp, Helbig Ingo, Stephani Ulrich, Møller Rikke S, Hjalgrim Helle, Dibbens Leanne M, Bellows Susannah, Oliver Karen, Mullen Saul, Scheffer Ingrid E, Berkovic Samuel F, Everett Kate V, Gardiner Mark R, Marini Carla, Guerrini Renzo, Lehesjoki Anna-Elina, Siren Auli, Guipponi Michel, Malafosse Alain, Thomas Pierre, Nabbout Rima, Baulac Stephanie, Leguern Eric, Guerrero Rosa, Serratosa Jose M, Reif Philipp S, Rosenow Felix, Mörzinger Martina, Feucht Martha, Zimprich Fritz, Kapser Claudia, Schankin Christoph J, Suls Arvid, Smets Katrin, De Jonghe Peter, Jordanova Albena, Caglayan Hande, Yapici Zuhal, Yalcin Destina A, Baykan Betul, Bebek Nerses, Ozbek Ugur, Gieger Christian, Wichmann Heinz-Erich, Balschun Tobias, Ellinghaus David, Franke Andre, Meesters Christian, Becker Tim, Wienker Thomas F, Hempelmann Anne, Schulz Herbert, Rüschendorf Franz, Leber Markus, Pauck Steffen M, Trucks Holger, Toliat Mohammad R, Nürnberg Peter, Avanzini Giuliano, Koeleman Bobby P C, Sander Thom |
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome. Brain : a journal of neurology 2014 May 137 (Pt 5): 1350-60. Mills Philippa B, Camuzeaux Stephane S M, Footitt Emma J, Mills Kevin A, Gissen Paul, Fisher Laura, Das Krishna B, Varadkar Sophia M, Zuberi Sameer, McWilliam Robert, Stödberg Tommy, Plecko Barbara, Baumgartner Matthias R, Maier Oliver, Calvert Sophie, Riney Kate, Wolf Nicole I, Livingston John H, Bala Pronab, Morel Chantal F, Feillet François, Raimondi Francesco, Del Giudice Ennio, Chong W Kling, Pitt Matthew, Clayton Peter |
Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. Annals of neurology 2017 Mar 81 (3): 419-429. Olson Heather E, Kelly McKenna, LaCoursiere Christopher M, Pinsky Rebecca, Tambunan Dimira, Shain Catherine, Ramgopal Sriram, Takeoka Masanori, Libenson Mark H, Julich Kristina, Loddenkemper Tobias, Marsh Eric D, Segal Devorah, Koh Susan, Salman Michael S, Paciorkowski Alex R, Yang Edward, Bergin Ann M, Sheidley Beth Rosen, Poduri Annapur |
Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy. Epilepsia open 2018 3 2 (2): 236-243. Fung Cheuk-Wing, Kwong Anna Ka-Yee, Wong Virginia Chun-N |
Assessing the genetic association between vitamin B6 metabolism and genetic generalized epilepsy.
Molecular genetics and metabolism reports 2019 Dec 21 100518. Stevelink Remi, Pangilinan Faith, Jansen Floor E, Braun Kees P J, , Molloy Anne M, Brody Lawrence C, Koeleman Bobby P |
A Rare Presentation Characterized by Epileptic Spasms in ALDH7A1, Pyridox(am)ine-5'-Phosphate Oxidase, and PLPBP Deficiency. Frontiers in genetics 2022 5 13 804461. Jiao Xianru, Gong Pan, Niu Yue, Zhang Yuehua, Yang Zhixi |
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- Page last updated:Apr 22, 2024
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