Found: 11

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  • The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3432, doi. 10.1002/ajmg.a.62950
    By:
    • Fennell, Andrew Paul;
    • Baxter, Anne Elizabeth;
    • Berkovic, Samuel Frank;
    • Ellaway, Carolyn Jane;
    • Forwood, Caitlin;
    • Hildebrand, Michael Stephen;
    • Kumble, Smitha;
    • McKeown, Colina;
    • Mowat, David;
    • Poke, Gemma;
    • Rajagopalan, Sulekha;
    • Regan, Brigid M.;
    • Scheffer, Ingrid Eileen;
    • Stark, Zornitza;
    • Stutterd, Chloe Alice;
    • Tan, Tiong Yang;
    • Wilkins, Ella Jane;
    • Yeung, Alison;
    • Hunter, Matthew Frank
    Publication type:
    Article

  • 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

  • Mutations in DEPDC5 cause familial focal epilepsy with variable foci.

    Published in:
    Nature Genetics, 2013, v. 45, n. 5, p. 546, doi. 10.1038/ng.2599
    By:
    • Dibbens, Leanne M;
    • de Vries, Boukje;
    • Donatello, Simona;
    • Heron, Sarah E;
    • Hodgson, Bree L;
    • Chintawar, Satyan;
    • Crompton, Douglas E;
    • Hughes, James N;
    • Bellows, Susannah T;
    • Klein, Karl Martin;
    • Callenbach, Petra M C;
    • Corbett, Mark A;
    • Gardner, Alison E;
    • Kivity, Sara;
    • Iona, Xenia;
    • Regan, Brigid M;
    • Weller, Claudia M;
    • Crimmins, Denis;
    • O'Brien, Terence J;
    • Guerrero-López, Rosa
    Publication type:
    Article

  • Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability.

    Published in:
    JAMA Neurology, 2017, v. 74, n. 11, p. 1301, doi. 10.1001/jamaneurol.2017.1775
    By:
    • Borlot, Felippe;
    • Regan, Brigid M.;
    • Bassett, Anne S.;
    • Stavropoulos, D. James;
    • Andrade, Danielle M.
    Publication type:
    Article

  • Genotype–phenotype associations in 1018 individuals with SCN1A‐related epilepsies.

    Published in:
    Epilepsia (Series 4), 2024, v. 65, n. 4, p. 1046, doi. 10.1111/epi.17882
    By:
    • Gallagher, Declan;
    • Pérez‐Palma, Eduardo;
    • Bruenger, Tobias;
    • Ghanty, Ismael;
    • Brilstra, Eva;
    • Ceulemans, Berten;
    • Chemaly, Nicole;
    • de Lange, Iris;
    • Depienne, Christel;
    • Guerrini, Renzo;
    • Mei, Davide;
    • Møller, Rikke S.;
    • Nabbout, Rima;
    • Regan, Brigid M.;
    • Schneider, Amy L.;
    • Scheffer, Ingrid E.;
    • Schoonjans, An‐Sofie;
    • Symonds, Joseph D.;
    • Weckhuysen, Sarah;
    • Zuberi, Sameer M.
    Publication type:
    Article

  • Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.

    Published in:
    2016
    By:
    • Bagnall, Richard D.;
    • Crompton, Douglas E.;
    • Petrovski, Slavé;
    • Lam, Lien;
    • Cutmore, Carina;
    • Garry, Sarah I.;
    • Sadleir, Lynette G.;
    • Dibbens, Leanne M.;
    • Cairns, Anita;
    • Kivity, Sara;
    • Afawi, Zaid;
    • Regan, Brigid M.;
    • Duflou, Johan;
    • Berkovic, Samuel F.;
    • Scheffer, Ingrid E.;
    • Semsarian, Christopher
    Publication type:
    journal article

  • Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.

    Published in:
    Annals of Neurology, 2014, v. 75, n. 5, p. 782, doi. 10.1002/ana.24126
    By:
    • Scheffer, Ingrid E.;
    • Heron, Sarah E.;
    • Regan, Brigid M.;
    • Mandelstam, Simone;
    • Crompton, Douglas E.;
    • Hodgson, Bree L.;
    • Licchetta, Laura;
    • Provini, Federica;
    • Bisulli, Francesca;
    • Vadlamudi, Lata;
    • Gecz, Jozef;
    • Connelly, Alan;
    • Tinuper, Paolo;
    • Ricos, Michael G.;
    • Berkovic, Samuel F.;
    • Dibbens, Leanne M.
    Publication type:
    Article

  • 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 22, p. 6069, doi. 10.1093/hmg/ddu306
    By:
    • Reinthaler, Eva M.;
    • Lal, Dennis;
    • Lebon, Sebastien;
    • Hildebrand, Michael S.;
    • Dahl, Hans-Henrik M.;
    • Regan, Brigid M.;
    • Feucht, Martha;
    • Steinböck, Hannelore;
    • Neophytou, Birgit;
    • Ronen, Gabriel M.;
    • Roche, Laurian;
    • Gruber-Sedlmayr, Ursula;
    • Geldner, Julia;
    • Haberlandt, Edda;
    • Hoffmann, Per;
    • Herms, Stefan;
    • Gieger, Christian;
    • Waldenberger, Melanie;
    • Franke, Andre;
    • Wittig, Michael
    Publication type:
    Article

  • Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike–Wave Activation in Sleep (D/EE‐SWAS).

    Published in:
    Annals of Neurology, 2024, v. 96, n. 5, p. 932, doi. 10.1002/ana.27041
    By:
    • Viswanathan, Sindhu;
    • Oliver, Karen L.;
    • Regan, Brigid M.;
    • Schneider, Amy L.;
    • Myers, Candace T.;
    • Mehaffey, Michele G.;
    • LaCroix, Amy J.;
    • Antony, Jayne;
    • Webster, Richard;
    • Cardamone, Michael;
    • Subramanian, Gopinath M.;
    • Chiu, Annie T.G.;
    • Roza, Eugenia;
    • Teleanu, Raluca I.;
    • Malone, Stephen;
    • Leventer, Richard J.;
    • Gill, Deepak;
    • Berkovic, Samuel F.;
    • Hildebrand, Michael S.;
    • Goad, Beatrice S.
    Publication type:
    Article

  • Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.

    Published in:
    Human Mutation, 2021, v. 42, n. 8, p. 1030, doi. 10.1002/humu.24237
    By:
    • Pham, Duyen H.;
    • Pitman, Melissa R.;
    • Kumar, Raman;
    • Jolly, Lachlan A.;
    • Schulz, Renee;
    • Gardner, Alison E.;
    • Nys, Rebekah;
    • Heron, Sarah E.;
    • Corbett, Mark A.;
    • Kothur, Kavitha;
    • Gill, Deepak;
    • Rajagopalan, Sulekha;
    • Kolc, Kristy L.;
    • Halliday, Benjamin J.;
    • Robertson, Stephen P.;
    • Regan, Brigid M.;
    • Kirsch, Heidi E.;
    • Berkovic, Samuel F.;
    • Scheffer, Ingrid E.;
    • Pitson, Stuart M.
    Publication type:
    Article

  • PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy.

    Published in:
    Annals of Clinical & Translational Neurology, 2015, v. 2, n. 8, p. 821, doi. 10.1002/acn3.224
    By:
    • Hildebrand, Michael S.;
    • Tankard, Rick;
    • Gazina, Elena V.;
    • Damiano, John A.;
    • Lawrence, Kate M.;
    • Dahl, Hans‐Henrik M.;
    • Regan, Brigid M.;
    • Shearer, Aiden Eliot;
    • Smith, Richard J. H.;
    • Marini, Carla;
    • Guerrini, Renzo;
    • Labate, Angelo;
    • Gambardella, Antonio;
    • Tinuper, Paolo;
    • Lichetta, Laura;
    • Baldassari, Sara;
    • Bisulli, Francesca;
    • Pippucci, Tommaso;
    • Scheffer, Ingrid E.;
    • Reid, Christopher A.
    Publication type:
    Article