PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome
Heron, Sarah E., Grinton, Bronwyn E., Kivity, Sara, Afawi, Zaid, Zuberi, Sameer M., Hughes, James N., Pridmore, Clair, Hodgson, Bree L., Iona, Xenia, Sadleir, Lynette G., Pelekanos, James, Herlenius, Eric, Goldberg-Stern, Hadassa, Bassan, Haim, Haan, Eric, Korczyn, Amos D., Gardner, Alison E., Corbett, Mark A., Gécz, Jozef, Thomas, Paul Q., Mulley, John C., Berkovic, Samuel F., Scheffer, Ingrid E., Dibbens, Leanne M.
Published in American journal of human genetics (13.01.2012)
Published in American journal of human genetics (13.01.2012)
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Benign familial neonatal-infantile seizures: Characterization of a new sodium channelopathy
Berkovic, Samuel F., Heron, Sarah E., Giordano, Lucio, Marini, Carla, Guerrini, Renzo, Kaplan, Robert E., Gambardella, Antonio, Steinlein, Ortrud K., Grinton, Bronwyn E., Dean, Joanne T., Bordo, Laura, Hodgson, Bree L., Yamamoto, Toshiyuki, Mulley, John C., Zara, Federico, Scheffer, Ingrid E.
Published in Annals of neurology (01.04.2004)
Published in Annals of neurology (01.04.2004)
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Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations
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.
Published in Annals of neurology (01.05.2014)
Published in Annals of neurology (01.05.2014)
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GABRA1 and STXBP1: novel genetic causes of Dravet syndrome
Carvill, Gemma L, Weckhuysen, Sarah, McMahon, Jacinta M, Hartmann, Corinna, Møller, Rikke S, Hjalgrim, Helle, Cook, Joseph, Geraghty, Eileen, O'Roak, Brian J, Petrou, Steve, Clarke, Alison, Gill, Deepak, Sadleir, Lynette G, Muhle, Hiltrud, von Spiczak, Sarah, Nikanorova, Marina, Hodgson, Bree L, Gazina, Elena V, Suls, Arvid, Shendure, Jay, Dibbens, Leanne M, De Jonghe, Peter, Helbig, Ingo, Berkovic, Samuel F, Scheffer, Ingrid E, Mefford, Heather C
Published in Neurology (08.04.2014)
Published in Neurology (08.04.2014)
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Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy
Ricos, Michael G., Hodgson, Bree L., Pippucci, Tommaso, Saidin, Akzam, Ong, Yeh Sze, Heron, Sarah E., Licchetta, Laura, Bisulli, Francesca, Bayly, Marta A., Hughes, James, Baldassari, Sara, Palombo, Flavia, Santucci, Margherita, Meletti, Stefano, Berkovic, Samuel F., Rubboli, Guido, Thomas, Paul Q., Scheffer, Ingrid E., Tinuper, Paolo, Geoghegan, Joel, Schreiber, Andreas W., Dibbens, Leanne M.
Published in Annals of neurology (01.01.2016)
Published in Annals of neurology (01.01.2016)
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Mutations in DEPDC5 cause familial focal epilepsy with variable foci
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, Mulley, John C, Dubeau, Francois, Licchetta, Laura, Bisulli, Francesca, Cossette, Patrick, Thomas, Paul Q, Gecz, Jozef, Serratosa, Jose, Brouwer, Oebele F, Andermann, Frederick, Andermann, Eva, van den Maagdenberg, Arn M J M, Pandolfo, Massimo, Berkovic, Samuel F, Scheffer, Ingrid E
Published in Nature genetics (01.05.2013)
Published in Nature genetics (01.05.2013)
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Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis
Berkovic, Samuel F., Dibbens, Leanne M., Oshlack, Alicia, Silver, Jeremy D., Katerelos, Marina, Vears, Danya F., Lüllmann-Rauch, Renate, Blanz, Judith, Zhang, Ke Wei, Stankovich, Jim, Kalnins, Renate M., Dowling, John P., Andermann, Eva, Andermann, Frederick, Faldini, Enrico, D'Hooge, Rudi, Vadlamudi, Lata, Macdonell, Richard A., Hodgson, Bree L., Bayly, Marta A., Savige, Judy, Mulley, John C., Smyth, Gordon K., Power, David A., Saftig, Paul, Bahlo, Melanie
Published in American journal of human genetics (01.03.2008)
Published in American journal of human genetics (01.03.2008)
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GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies
Dibbens, Leanne M., Feng, Hua-Jun, Richards, Michaella C., Harkin, Louise A., Hodgson, Bree L., Scott, Darren, Jenkins, Misty, Petrou, Steven, Sutherland, Grant R., Scheffer, Ingrid E., Berkovic, Samuel F., Macdonald, Robert L., Mulley, John C.
Published in Human molecular genetics (01.07.2004)
Published in Human molecular genetics (01.07.2004)
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Autosomal dominant vasovagal syncope: clinical features and linkage to chromosome 15q26
Klein, Karl Martin, Bromhead, Catherine J, Smith, Katherine R, O'Callaghan, Christopher J, Corcoran, Susan J, Heron, Sarah E, Iona, Xenia, Hodgson, Bree L, McMahon, Jacinta M, Lawrence, Kate M, Scheffer, Ingrid E, Dibbens, Leanne M, Bahlo, Melanie, Berkovic, Samuel F
Published in Neurology (16.04.2013)
Published in Neurology (16.04.2013)
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GABRD encoding a protein for extra- or perisynaptic GABAAreceptors is a susceptibility locus for generalized epilepsies
DIBBENS, Leanne M, FENG, Hua-Jun, BERKOVIC, Samuel F, MACDONALD, Robert L, MULLEY, John C, RICHARDS, Michaella C, HARKIN, Louise A, HODGSON, Bree L, SCOTT, Darren, JENKINS, Misty, PETROU, Steven, SUTHERLAND, Grant R, SCHEFFER, Ingrid E
Published in Human molecular genetics (2004)
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Published in Human molecular genetics (2004)
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