Works matching Epilepsy and genetics

Results: 3219
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    Primer Part 1-The building blocks of epilepsy genetics.

    Published in:
    Epilepsia (Series 4), 2016, v. 57, n. 6, p. 861, doi. 10.1111/epi.13381
    By:
    • Helbig, Ingo;
    • Heinzen, Erin L.;
    • Mefford, Heather C.;
    • Berkovic, Samuel F;
    • Lowenstein, Daniel H;
    • Kato, Mitsuhiro;
    • Helen Cross, J.;
    • Satishchandra, P.;
    • De Jonghe, Peter;
    • Jiang, Yuwu;
    • Goldman, Alicia;
    • Petrou, Steve;
    • Tan, Nigel
    Publication type:
    Article
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    WONOEP appraisal: New genetic approaches to study epilepsy.

    Published in:
    Epilepsia (Series 4), 2014, v. 55, n. 8, p. 1170, doi. 10.1111/epi.12692
    By:
    • Rossignol, Elsa;
    • Kobow, Katja;
    • Simonato, Michele;
    • Loeb, Jeffrey A.;
    • Grisar, Thierry;
    • Gilby, Krista L.;
    • Vinet, Jonathan;
    • Kadam, Shilpa D.;
    • Becker, Albert J.
    Publication type:
    Article
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    Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project.

    Published in:
    Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. 1, doi. 10.1186/s13052-020-00860-1
    By:
    • Amadori, Elisabetta;
    • Scala, Marcello;
    • Cereda, Giulia Sofia;
    • Vari, Maria Stella;
    • Marchese, Francesca;
    • Di Pisa, Veronica;
    • Mancardi, Maria Margherita;
    • Giacomini, Thea;
    • Siri, Laura;
    • Vercellino, Fabiana;
    • Serino, Domenico;
    • Orsini, Alessandro;
    • Bonuccelli, Alice;
    • Bagnasco, Irene;
    • Papa, Amanda;
    • Minetti, Carlo;
    • Cordelli, Duccio Maria;
    • Striano, Pasquale
    Publication type:
    Article
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    Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.

    Published in:
    JAMA Network Open, 2019, p. e192129, doi. 10.1001/jamanetworkopen.2019.2129
    By:
    • Balciuniene, Jorune;
    • DeChene, Elizabeth T.;
    • Akgumus, Gozde;
    • Romasko, Edward J.;
    • Cao, Kajia;
    • Dubbs, Holly A.;
    • Mulchandani, Surabhi;
    • Spinner, Nancy B.;
    • Conlin, Laura K.;
    • Marsh, Eric D.;
    • Goldberg, Ethan;
    • Helbig, Ingo;
    • Sarmady, Mahdi;
    • Abou Tayoun, Ahmad
    Publication type:
    Article
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    Rare gene deletions in genetic generalized and Rolandic epilepsies.

    Published in:
    PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0202022
    By:
    • Jabbari, Kamel;
    • Bobbili, Dheeraj R.;
    • Lal, Dennis;
    • Reinthaler, Eva M.;
    • Schubert, Julian;
    • Wolking, Stefan;
    • Sinha, Vishal;
    • Motameny, Susanne;
    • Thiele, Holger;
    • Kawalia, Amit;
    • Altmüller, Janine;
    • Toliat, Mohammad Reza;
    • Kraaij, Robert;
    • van Rooij, Jeroen;
    • Uitterlinden, André G.;
    • Ikram, M. Arfan;
    • null, null;
    • Zara, Federico;
    • Lehesjoki, Anna-Elina;
    • Krause, Roland
    Publication type:
    Article
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    Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series.

    Published in:
    International Journal of Legal Medicine, 2015, v. 129, n. 3, p. 495, doi. 10.1007/s00414-014-1063-4
    By:
    • Partemi, Sara;
    • Vidal, Monica;
    • Striano, Pasquale;
    • Campuzano, Oscar;
    • Allegue, Catarina;
    • Pezzella, Marianna;
    • Elia, Maurizio;
    • Parisi, Pasquale;
    • Belcastro, Vincenzo;
    • Casellato, Susanna;
    • Giordano, Lucio;
    • Mastrangelo, Massimo;
    • Pietrafusa, Nicola;
    • Striano, Salvatore;
    • Zara, Federico;
    • Bianchi, Amedeo;
    • Buti, Daniela;
    • Neve, Angela;
    • Tassinari, Carlo;
    • Oliva, Antonio
    Publication type:
    Article
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    Genetic mechanisms in idiopathic epilepsies.

    Published in:
    Developmental Medicine & Child Neurology, 2008, v. 50, n. 9, p. 648, doi. 10.1111/j.1469-8749.2008.03058.x
    By:
    • Weber, Yvonne G.;
    • Lerche, Holger
    Publication type:
    Article
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    Clinical Research Genetic Architecture of Idiopathic Generalized Epilepsy: Clinical Genetic Analysis of 55 Multiplex Families.

    Published in:
    Epilepsia (Series 4), 2004, v. 45, n. 5, p. 467, doi. 10.1111/j.0013-9580.2004.46803.x
    By:
    • Marini, Carla;
    • Scheffer, Ingrid E.;
    • Crossland, Kathryn M.;
    • Grinton, Bronwyn E.;
    • Phillips, Fiona L.;
    • McMahon, Jacinta M.;
    • Turner, Samantha J.;
    • Dean, Joanne T.;
    • Kivity, Sara;
    • Mazarib, Aziz;
    • Neufeld, Miriam Y.;
    • Korczyn, Amos D.;
    • Harkin, Louise A.;
    • Dibbens, Leanne M.;
    • Wallace, Robyn H.;
    • Mulley, John C.;
    • Berkovic, Samuel F.
    Publication type:
    Article
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    Genetic Identifiers of Epilepsy.

    Published in:
    Epilepsia (Series 4), 2002, v. 43, p. 16, doi. 10.1046/j.1528-1157.43.s.9.5.x
    By:
    • Kaneko, Sunao;
    • Iwasa, Hiroto;
    • Okada, Motohiro
    Publication type:
    Article
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    From Genetics to Genomics of Epilepsy.

    Published in:
    Neurology Research International, 2012, p. 1, doi. 10.1155/2012/876234
    By:
    • Garofalo, Silvio;
    • Cornacchione, Marisa;
    • Di Costanzo, Alfonso
    Publication type:
    Article
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    The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield.

    Published in:
    Epilepsia (Series 4), 2019, v. 60, n. 5, p. 797, doi. 10.1111/epi.14698
    By:
    • Berkovic, Samuel F.;
    • Goldstein, David B.;
    • Heinzen, Erin L.;
    • Laughlin, Brandon L.;
    • Lowenstein, Daniel H.;
    • Lubbers, Laura;
    • Stewart, Randall;
    • Whittemore, Vicky;
    • Angione, Kaitlin;
    • Bazil, Carl W.;
    • Bier, Louise;
    • Bluvstein, Judith;
    • Brimble, Elise;
    • Campbell, Colleen;
    • Cavalleri, Gianpiero;
    • Chambers, Chelsea;
    • Choi, Hyunmi;
    • Cilio, Maria Roberta;
    • Ciliberto, Michael;
    • Cornes, Susannah
    Publication type:
    Article
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    Genetic generalized epilepsies.

    Published in:
    Epilepsia (Series 4), 2018, v. 59, n. 6, p. 1148, doi. 10.1111/epi.14042
    By:
    • Berkovic, Samuel F.;
    • the ILAE Genetics Commission;
    • Mullen, Saul A.
    Publication type:
    Article
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