Human Genome Epidemiology Literature Finder
Records 1 - 11 (of 11 Records) |
Query Trace: Epilepsy and GRIN2A[original query] |
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Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nature genetics 2013 Sep 45 (9): 1067-72. Lemke Johannes R, Lal Dennis, Reinthaler Eva M, Steiner Isabelle, Nothnagel Michael, Alber Michael, Geider Kirsten, Laube Bodo, Schwake Michael, Finsterwalder Katrin, Franke Andre, Schilhabel Markus, Jähn Johanna A, Muhle Hiltrud, Boor Rainer, Van Paesschen Wim, Caraballo Roberto, Fejerman Natalio, Weckhuysen Sarah, De Jonghe Peter, Larsen Jan, Møller Rikke S, Hjalgrim Helle, Addis Laura, Tang Shan, Hughes Elaine, Pal Deb K, Veri Kadi, Vaher Ulvi, Talvik Tiina, Dimova Petia, Guerrero López Rosa, Serratosa José M, Linnankivi Tarja, Lehesjoki Anna-Elina, Ruf Susanne, Wolff Markus, Buerki Sarah, Wohlrab Gabriele, Kroell Judith, Datta Alexandre N, Fiedler Barbara, Kurlemann Gerhard, Kluger Gerhard, Hahn Andreas, Haberlandt D Edda, Kutzer Christina, Sperner Jürgen, Becker Felicitas, Weber Yvonne G, Feucht Martha, Steinböck Hannelore, Neophythou Birgit, Ronen Gabriel M, Gruber-Sedlmayr Ursula, Geldner Julia, Harvey Robert J, Hoffmann Per, Herms Stefan, Altmüller Janine, Toliat Mohammad R, Thiele Holger, Nürnberg Peter, Wilhelm Christian, Stephani Ulrich, Helbig Ingo, Lerche Holger, Zimprich Fritz, Neubauer Bernd A, Biskup Saskia, von Spiczak Sar |
GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nature genetics 2013 Sep 45 (9): 1073-6. Carvill Gemma L, Regan Brigid M, Yendle Simone C, O'Roak Brian J, Lozovaya Natalia, Bruneau Nadine, Burnashev Nail, Khan Adiba, Cook Joseph, Geraghty Eileen, Sadleir Lynette G, Turner Samantha J, Tsai Meng-Han, Webster Richard, Ouvrier Robert, Damiano John A, Berkovic Samuel F, Shendure Jay, Hildebrand Michael S, Szepetowski Pierre, Scheffer Ingrid E, Mefford Heather |
Investigation of GRIN2A in common epilepsy phenotypes. Epilepsy research 2015 Sep 115 95-9. Lal Dennis, Steinbrücker Sandra, Schubert Julian, Sander Thomas, Becker Felicitas, Weber Yvonne, Lerche Holger, Thiele Holger, Krause Roland, Lehesjoki Anna-Elina, Nürnberg Peter, Palotie Aarno, Neubauer Bernd A, Muhle Hiltrud, Stephani Ulrich, Helbig Ingo, Becker Albert J, Schoch Susanne, Hansen Jörg, Dorn Thomas, Hohl Christin, Lüscher Nicole, , , von Spiczak Sarah, Lemke Johannes |
Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP. PloS one 2017 12 12 (12): e0189618. Coll Monica, Striano Pasquale, Ferrer-Costa Carles, Campuzano Oscar, Matés Jesús, Del Olmo Bernat, Iglesias Anna, Pérez-Serra Alexandra, Mademont Irene, Picó Ferran, Oliva Antonio, Brugada Ram |
Epilepsy in patients with GRIN2A alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2017 1 21 (3): 530-541. von Stülpnagel C, Ensslen M, Møller R S, Pal D K, Masnada S, Veggiotti P, Piazza E, Dreesmann M, Hartlieb T, Herberhold T, Hughes E, Koch M, Kutzer C, Hoertnagel K, Nitanda J, Pohl M, Rostásy K, Haack T B, Stöhr K, Kluger G, Borggraefe |
Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy. Seizure 2018 6 59 132-140. Kothur Kavitha, Holman Katherine, Farnsworth Elizabeth, Ho Gladys, Lorentzos Michelle, Troedson Christopher, Gupta Sachin, Webster Richard, Procopis Peter G, Menezes Manoj P, Antony Jayne, Ardern-Holmes Simone, Dale Russell C, Christodoulou John, Gill Deepak, Bennetts Bru |
Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses. Journal of medical genetics 2018 5 55 (9): 607-616. Addis Laura, Sproviero William, Thomas Sanjeev V, Caraballo Roberto H, Newhouse Stephen J, Gomez Kumudini, Hughes Elaine, Kinali Maria, McCormick David, Hannan Siobhan, Cossu Silvia, Taylor Jacqueline, Akman Cigdem I, Wolf Steven M, Mandelbaum David E, Gupta Rajesh, van der Spek Rick A, Pruna Dario, Pal Deb |
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. European journal of human genetics : EJHG 2018 1 26 (2): 258-264. Bobbili Dheeraj R, Lal Dennis, May Patrick, Reinthaler Eva M, Jabbari Kamel, Thiele Holger, Nothnagel Michael, Jurkowski Wiktor, Feucht Martha, Nürnberg Peter, Lerche Holger, Zimprich Fritz, Krause Roland, Neubauer Bernd A, Reinthaler Eva M, Zimprich Fritz, Feucht Martha, Steinböck Hannelore, Neophytou Birgit, Geldner Julia, Gruber-Sedlmayr Ursula, Haberlandt Edda, Ronen Gabriel M, Altmüller Janine, Lal Dennis, Nürnberg Peter, Sander Thomas, Thiele Holger, Krause Roland, May Patrick, Balling Rudi, Lerche Holger, Neubauer Bernd A, |
An Epilepsy-Associated GRIN2A Rare Variant Disrupts CaMKII? Phosphorylation of GluN2A and NMDA Receptor Trafficking. Cell reports 2020 9 32 (9): 108104. Mota Vieira Marta, Nguyen Thien A, Wu Kunwei, Badger John D, Collins Brett M, Anggono Victor, Lu Wei, Roche Katherine |
Rare coding variants in ten genes confer substantial risk for schizophrenia. Nature 2022 4 604 (7906): 509-516. Singh Tarjinder, Poterba Timothy, Curtis David, Akil Huda, Al Eissa Mariam, Barchas Jack D, Bass Nicholas, Bigdeli Tim B, Breen Gerome, Bromet Evelyn J, Buckley Peter F, Bunney William E, Bybjerg-Grauholm Jonas, Byerley William F, Chapman Sinéad B, Chen Wei J, Churchhouse Claire, Craddock Nicholas, Cusick Caroline M, DeLisi Lynn, Dodge Sheila, Escamilla Michael A, Eskelinen Saana, Fanous Ayman H, Faraone Stephen V, Fiorentino Alessia, Francioli Laurent, Gabriel Stacey B, Gage Diane, Gagliano Taliun Sarah A, Ganna Andrea, Genovese Giulio, Glahn David C, Grove Jakob, Hall Mei-Hua, Hämäläinen Eija, Heyne Henrike O, Holi Matti, Hougaard David M, Howrigan Daniel P, Huang Hailiang, Hwu Hai-Gwo, Kahn René S, Kang Hyun Min, Karczewski Konrad J, Kirov George, Knowles James A, Lee Francis S, Lehrer Douglas S, Lescai Francesco, Malaspina Dolores, Marder Stephen R, McCarroll Steven A, McIntosh Andrew M, Medeiros Helena, Milani Lili, Morley Christopher P, Morris Derek W, Mortensen Preben Bo, Myers Richard M, Nordentoft Merete, O'Brien Niamh L, Olivares Ana Maria, Ongur Dost, Ouwehand Willem H, Palmer Duncan S, Paunio Tiina, Quested Digby, Rapaport Mark H, Rees Elliott, Rollins Brandi, Satterstrom F Kyle, Schatzberg Alan, Scolnick Edward, Scott Laura J, Sharp Sally I, Sklar Pamela, Smoller Jordan W, Sobell Janet L, Solomonson Matthew, Stahl Eli A, Stevens Christine R, Suvisaari Jaana, Tiao Grace, Watson Stanley J, Watts Nicholas A, Blackwood Douglas H, Børglum Anders D, Cohen Bruce M, Corvin Aiden P, Esko Tõnu, Freimer Nelson B, Glatt Stephen J, Hultman Christina M, McQuillin Andrew, Palotie Aarno, Pato Carlos N, Pato Michele T, Pulver Ann E, St Clair David, Tsuang Ming T, Vawter Marquis P, Walters James T, Werge Thomas M, Ophoff Roel A, Sullivan Patrick F, Owen Michael J, Boehnke Michael, O'Donovan Michael C, Neale Benjamin M, Daly Mark |
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant. European journal of medical genetics 2022 4 65 (5): 104500. De Bernardi Margherita Lucia, Di Stazio Agnese, Romano Alfonso, Minardi Raffaella, Bisulli Francesca, Licchetta Laura, Aiello Salvatore, Carelli Valerio, Brunetti-Pierri Nicola, Cappuccio Gerarda, Terrone Gaeta |
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