Works matching DE "GENETICS of epilepsy"

Results: 472
    1
    2

    Advances in genetics of migraine.

    Published in:
    Journal of Headache & Pain, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s10194-019-1017-9
    By:
    • Sutherland, Heidi G.;
    • Albury, Cassie L.;
    • Griffiths, Lyn R.
    Publication type:
    Article
    3

    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
    4
    5
    6
    7
    8
    9
    10
    11
    12

    Research progress of epigenetics in epilepsy.

    Published in:
    Chinese Journal of Contemporary Neurology & Neurosurgery, 2018, v. 18, n. 6, p. 391, doi. 10.3969/j.issn.1672-6731.2018.06.003
    By:
    • WU Wen-yue;
    • XIAO Wen-biao;
    • LONG Hong-yu;
    • XIAO Bo
    Publication type:
    Article
    13
    14

    A homozygous TARS2 variant is a novel cause of syndromic neonatal diabetes.

    Published in:
    Diabetic Medicine, 2025, v. 42, n. 3, p. 1, doi. 10.1111/dme.15471
    By:
    • Donis, Russell;
    • Patel, Kashyap A.;
    • Wakeling, Matthew N.;
    • Johnson, Matthew B.;
    • Amoli, Masha M.;
    • Yildiz, Melek;
    • Akçay, Teoman;
    • Aspi, Irani;
    • Yong, James;
    • Yaghootkar, Hanieh;
    • Weedon, Michael N.;
    • Hattersley, Andrew T.;
    • Flanagan, Sarah E.;
    • De Franco, Elisa
    Publication type:
    Article
    15
    16
    17

    Linkage and association analysis of CACNG3 in childhood absence epilepsy.

    Published in:
    European Journal of Human Genetics, 2007, v. 15, n. 4, p. 463, doi. 10.1038/sj.ejhg.5201783
    By:
    • Everett, Kate V.;
    • Chioza, Barry;
    • Aicardi, Jean;
    • Aschauer, Harald;
    • Brouwer, Oebele;
    • Callenbach, Petra;
    • Covanis, Athanasios;
    • Dulac, Olivier;
    • Eeg-Olofsson, Orvar;
    • Feucht, Martha;
    • Friis, Mogens;
    • Goutieres, Françoise;
    • Guerrini, Renzo;
    • Heils, Armin;
    • Kjeldsen, Marianne;
    • Lehesjoki, Anna-Elina;
    • Makoff, Andrew;
    • Nabbout, Rima;
    • Olsson, Ingrid;
    • Sander, Thomas
    Publication type:
    Article
    18
    19
    20

    Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

    Published in:
    Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0178-8
    By:
    • Ehret, Julia K.;
    • Engels, Hartmut;
    • Cremer, Kirsten;
    • Becker, Jessica;
    • Zimmermann, Johannes P.;
    • Wohlleber, Eva;
    • Grasshoff, Ute;
    • Rossier, Eva;
    • Bonin, Michael;
    • Mangold, Elisabeth;
    • Bevot, Andrea;
    • Schön, Stefanie;
    • Heilmann-Heimbach, Stefanie;
    • Dennert, Nicola;
    • Mathieu-Dramard, Michèle;
    • Lacaze, Elodie;
    • Plessis, Ghislaine;
    • de Broca, Alain;
    • Jedraszak, Guillaume;
    • Röthlisberger, Benno
    Publication type:
    Article
    21
    22
    23
    24
    25
    26
    27

    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
    28
    29

    Injury Response of Resected Human Brain Tissue In Vitro.

    Published in:
    Brain Pathology, 2015, v. 25, n. 4, p. 454, doi. 10.1111/bpa.12189
    By:
    • Verwer, Ronald W.H.;
    • Sluiter, Arja A.;
    • Balesar, Rawien A.;
    • Baaijen, Johannes C.;
    • Witt Hamer, Philip C.;
    • Speijer, Dave;
    • Li, Yichen;
    • Swaab, Dick F.
    Publication type:
    Article
    30
    31

    Proteomic Profiling of the Epileptic Dentate Gyrus.

    Published in:
    Brain Pathology, 2010, v. 20, n. 6, p. 1077, doi. 10.1111/j.1750-3639.2010.00414.x
    By:
    • Aiqing Li;
    • Yun-Sik Choi;
    • Dziema, Heather;
    • Ruifeng Cao;
    • Hee-Yeon Cho;
    • Yeon Joo Jung;
    • Obrietan, Karl
    Publication type:
    Article
    32
    33

    Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.

    Published in:
    Nature Genetics, 2015, v. 47, n. 1, p. 73, doi. 10.1038/ng.3153
    By:
    • Simons, Cas;
    • Rash, Lachlan D;
    • Crawford, Joanna;
    • Ma, Linlin;
    • Cristofori-Armstrong, Ben;
    • Ru, Kelin;
    • Baillie, Gregory J;
    • King, Glenn F;
    • McGaughran, Julie;
    • Gabbett, Michael T;
    • Taft, Ryan J;
    • Miller, David;
    • Alanay, Yasemin;
    • Jacquinet, Adeline;
    • Debray, François-Guillaume;
    • Verloes, Alain;
    • Shen, Joseph;
    • Yesil, Gözde;
    • Guler, Serhat;
    • Yuksel, Adnan
    Publication type:
    Article
    34

    A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

    Published in:
    Nature Genetics, 2015, v. 47, n. 1, p. 39, doi. 10.1038/ng.3144
    By:
    • Muona, Mikko;
    • Tinuper, Paolo;
    • Licchetta, Laura;
    • Scheffer, Ingrid E;
    • Criscuolo, Chiara;
    • Filla, Alessandro;
    • Ferlazzo, Edoardo;
    • Ahmad, Jamil;
    • Ahmad, Adeel;
    • Baykan, Betul;
    • Said, Edith;
    • Topcu, Meral;
    • King, Mary D;
    • Berkovic, Samuel F;
    • Oliver, Karen L;
    • Hildebrand, Michael S;
    • Ozkara, Cigdem;
    • Andrade, Danielle M;
    • Engelsen, Bernt A;
    • Crespel, Arielle
    Publication type:
    Article
    35

    Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.

    Published in:
    Nature Genetics, 2014, v. 46, n. 12, p. 1327, doi. 10.1038/ng.3130
    By:
    • Schubert, Julian;
    • Becker, Felicitas;
    • Weber, Yvonne G;
    • Lerche, Holger;
    • Thiele, Holger;
    • Konrad, Kathryn;
    • Kawalia, Amit;
    • Toliat, Mohammad R;
    • Sander, Thomas;
    • Rüschendorf, Franz;
    • Caliebe, Almuth;
    • Nagel, Inga;
    • Kohl, Bernard;
    • Riesch, Erik;
    • Dorn, Thomas;
    • Baulac, Stephanie;
    • Møller, Rikke S;
    • Hjalgrim, Helle;
    • Jurkat-Rott, Karin;
    • Lehman-Horn, Frank
    Publication type:
    Article
    36

    GRIN2A mutations cause epilepsy-aphasia spectrum disorders.

    Published in:
    Nature Genetics, 2013, v. 45, n. 9, p. 1073, doi. 10.1038/ng.2727
    By:
    • 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
    Publication type:
    Article
    37

    Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.

    Published in:
    Nature Genetics, 2013, v. 45, n. 9, p. 1067, doi. 10.1038/ng.2728
    By:
    • 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
    Publication type:
    Article
    38

    A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.

    Published in:
    Nature Genetics, 2008, v. 40, n. 3, p. 322, doi. 10.1038/ng.93
    By:
    • Sharp, Andrew J.;
    • Mefford, Heather C.;
    • Kelly Li;
    • Baker, Carl;
    • Skinner, Cindy;
    • Stevenson, Roger E.;
    • Schroer, Richard J.;
    • Novara, Francesca;
    • De Gregori, Manuela;
    • Ciccone, Roberto;
    • Broomer, Adam;
    • Casuga, Iris;
    • Yu Wang;
    • Chunlin Xiao;
    • Barbacioru, Catalin;
    • Gimelli, Giorgio;
    • Bernardina, Bernardo Dalla;
    • Torniero, Claudia;
    • Giorda, Roberto;
    • Regan, Regina
    Publication type:
    Article
    39
    40
    41
    42

    Touching Base.

    Published in:
    Nature Genetics, 1998, v. 20, n. 3, p. 226, doi. 10.1038/3021
    Publication type:
    Article
    43
    44
    45
    46

    Migraine and epilepsy: what value today?

    Published in:
    Journal of Headache & Pain, 2015, v. 16, p. 1, doi. 10.1186/1129-2377-16-S1-A44
    By:
    • Costa, Cinzia;
    • Prontera, Paolo;
    • Caproni, Stefano;
    • Cupini, Letizia M.;
    • Sarchielli, Paola;
    • Calabresi, Paolo
    Publication type:
    Article
    47
    48
    49
    50