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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A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia
Corbett, Mark A., Schwake, Michael, Bahlo, Melanie, Dibbens, Leanne M., Lin, Meng, Gandolfo, Luke C., Vears, Danya F., O'Sullivan, John D., Robertson, Thomas, Bayly, Marta A., Gardner, Alison E., Vlaar, Annemarie M., Korenke, G. Christoph, Bloem, Bastiaan R., de Coo, Irenaeus F., Verhagen, Judith M.A., Lehesjoki, Anna-Elina, Gecz, Jozef, Berkovic, Samuel F.
Published in American journal of human genetics (13.05.2011)
Published in American journal of human genetics (13.05.2011)
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A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
Muona, Mikko, Berkovic, Samuel F, Dibbens, Leanne M, Oliver, Karen L, Maljevic, Snezana, Bayly, Marta A, Joensuu, Tarja, Canafoglia, Laura, Franceschetti, Silvana, Michelucci, Roberto, Markkinen, Salla, Heron, Sarah E, Hildebrand, Michael S, Andermann, Eva, Andermann, Frederick, Gambardella, Antonio, Tinuper, Paolo, Licchetta, Laura, Scheffer, Ingrid E, Criscuolo, Chiara, Filla, Alessandro, Ferlazzo, Edoardo, Ahmad, Jamil, Ahmad, Adeel, Baykan, Betul, Said, Edith, Topcu, Meral, Riguzzi, Patrizia, King, Mary D, Ozkara, Cigdem, Andrade, Danielle M, Engelsen, Bernt A, Crespel, Arielle, Lindenau, Matthias, Lohmann, Ebba, Saletti, Veronica, Massano, João, Privitera, Michael, Espay, Alberto J, Kauffmann, Birgit, Duchowny, Michael, Møller, Rikke S, Straussberg, Rachel, Afawi, Zaid, Ben-Zeev, Bruria, Samocha, Kaitlin E, Daly, Mark J, Petrou, Steven, Lerche, Holger, Palotie, Aarno, Lehesjoki, Anna-Elina
Published in Nature genetics (01.01.2015)
Published in Nature genetics (01.01.2015)
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Copy number variants are frequent in genetic generalized epilepsy with intellectual disability
Mullen, Saul A, Carvill, Gemma L, Bellows, Susannah, Bayly, Marta A, Trucks, Holger, Lal, Dennis, Sander, Thoman, Berkovic, Samuel F, Dibbens, Leanne M, Scheffer, Ingrid E, Mefford, Heather C
Published in Neurology (22.10.2013)
Published in Neurology (22.10.2013)
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X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
Jenkinson, Andrew, Varian, Jennifer, Shoubridge, Cheryl, Vandeleur, Lucianne, Shepherd, Rebecca, Hynes, Kim, Shaw, Marie, Gusella, James F, Teague, John, Edkins, Sarah, Dicks, Ed, Dibbens, Leanne M, Haan, Eric, Gécz, Jozef, Halliday, Kelly, Lerman-Sagie, Tally, Sutton, Edwina, Corbett, Mark, Wray, Paul, Bomar, Jamee, Stevens, Claire, Scheffer, Ingrid E, Barthorpe, Syd, Butler, Adam, Tarpey, Patrick S, Jones, David, Bayly, Marta A, Madison, Mark, West, Sofie, Lev, Dorit, Stratton, Michael R, Neufeld, Miriam Y, Korczyn, Amos D, Tofts, Calli, Futreal, P Andrew, Turner, Samantha J, Kim, Hyung-Goo, Berkovic, Samuel F, Buck, Gemma, O'Meara, Sarah, Friend, Kathryn, Kivity, Sara, Afawi, Zaid, Mironenko, Tatiana, McKee, Shane, Cole, Jennifer, Lee, Rebecca, Geschwind, Daniel H, Widaa, Sara, Ryan, Stephen, Smith, Raffaella, Sutherland, Grant R, Menzies, Andrew, Mulley, John C, Mazarib, Aziz, Derry, Christopher P, Thomas, Paul
Published in Nature genetics (01.06.2008)
Published in Nature genetics (01.06.2008)
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Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance
Dibbens, Leanne M., Mullen, Saul, Helbig, Ingo, Mefford, Heather C., Bayly, Marta A., Bellows, Susannah, Leu, Costin, Trucks, Holger, Obermeier, Tanja, Wittig, Michael, Franke, Andre, Caglayan, Hande, Yapici, Zuhal, Sander, Thomas, Eichler, Evan E., Scheffer, Ingrid E., Mulley, John C., Berkovic, Samuel F.
Published in Human molecular genetics (01.10.2009)
Published in Human molecular genetics (01.10.2009)
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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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Epilepsy and mental retardation limited to females: an under-recognized disorder
Scheffer, Ingrid E., Turner, Samantha J., Dibbens, Leanne M., Bayly, Marta A., Friend, Kathryn, Hodgson, Bree, Burrows, Linda, Shaw, Marie, Wei, Chen, Ullmann, Reinhard, Ropers, Hans-Hilger, Szepetowski, Pierre, Haan, Eric, Mazarib, Aziz, Afawi, Zaid, Neufeld, Miriam Y., Andrews, P. Ian, Wallace, Geoffrey, Kivity, Sara, Lev, Dorit, Lerman-Sagie, Tally, Derry, Christopher P., Korczyn, Amos D., Gecz, Jozef, Mulley, John C., Berkovic, Samuel F.
Published in Brain (London, England : 1878) (01.04.2008)
Published in Brain (London, England : 1878) (01.04.2008)
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'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation
BOISSE LOMAX, Lysa, BAYLY, Marta A, O'SULLIVAN, John D, CHRISTOPH KORENKE, G, BLOEM, Bastiaan R, DE COO, Irenaeus F, VERHAGEN, Judith M. A, SAID, Ines, PRESCOTT, Trine, STRAY-PEDERSEN, Asbjorg, RASMUSSEN, Magnhild, VEARS, Danya F, HJALGRIM, Helle, LEHESJOKI, Anna-Elina, CORBETT, Mark A, BAHLO, Melanie, GECZ, Jozef, DIBBENS, Leanne M, BERKOVIC, Samuel F, MØLLER, Rikke S, VLAAR, Annemarie M, AABERG, Kari M, MARQUARDT, Iris, GANDOLFO, Luke C, WILLEMSEN, Michèl, KAMSTEEG, Erik-Jan
Published in Brain (London, England : 1878) (01.04.2013)
Published in Brain (London, England : 1878) (01.04.2013)
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Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families
Hynes, Kim, Tarpey, Patrick, Dibbens, Leanne M, Bayly, Marta A, Berkovic, Samuel F, Smith, Raffaella, Raisi, Zahyia Al, Turner, Samantha J, Brown, Natasha J, Desai, Tarishi D, Haan, Eric, Turner, Gillian, Christodoulou, John, Leonard, Helen, Gill, Deepak, Stratton, Michael R, Gecz, Jozef, Scheffer, Ingrid E
Published in Journal of medical genetics (01.03.2010)
Published in Journal of medical genetics (01.03.2010)
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Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes
Mulley, John C., Scheffer, Ingrid E., Desai, Tarishi, Bayly, Marta A., Grinton, Bronwyn E., Vears, Danya F., Berkovic, Samuel F., Dibbens, Leanne M.
Published in Epilepsia (Copenhagen) (01.10.2011)
Published in Epilepsia (Copenhagen) (01.10.2011)
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Gene expression analysis in absence epilepsy using a monozygotic twin design
Helbig, Ingo, Matigian, Nicholas A., Vadlamudi, Lata, Lawrence, Kate M., Bayly, Marta A., Bain, Sharon M., Diyagama, Dileepa, Scheffer, Ingrid E., Mulley, John C., Holloway, Andrew J., Dibbens, Leanne M., Berkovic, Samuel F., Hayward, Nicholas K.
Published in Epilepsia (Copenhagen) (01.09.2008)
Published in Epilepsia (Copenhagen) (01.09.2008)
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Abnormal Processing of Autophagosomes in Transformed B Lymphocytes from SCARB2-Deficient Subjects
Gleich, Kurt, Desmond, Michael J, Lee, Darren, Berkovic, Samuel F, Dibbens, Leanne M, Katerelos, Marina, Bayly, Marta A, Fraser, Scott A, Martinello, Paul, Vears, Danya F, Mount, Peter, Power, David A
Published in BioResearch open access (01.02.2013)
Published in BioResearch open access (01.02.2013)
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Mutation of SCARB2 in a Patient With Progressive Myoclonus Epilepsy and Demyelinating Peripheral Neuropathy
Dibbens, Leanne M, Karakis, Ioannis, Bayly, Marta A, Costello, Daniel J, Cole, Andrew J, Berkovic, Samuel F
Published in Archives of neurology (Chicago) (01.06.2011)
Published in Archives of neurology (Chicago) (01.06.2011)
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Mutations in KCNT1 cause a spectrum of focal epilepsies
Møller, Rikke S., Heron, Sarah E., Larsen, Line H. G., Lim, Chiao Xin, Ricos, Michael G., Bayly, Marta A., Kempen, Marjan J. A., Klinkenberg, Sylvia, Andrews, Ian, Kelley, Kent, Ronen, Gabriel M., Callen, David, McMahon, Jacinta M., Yendle, Simone C., Carvill, Gemma L., Mefford, Heather C., Nabbout, Rima, Poduri, Annapurna, Striano, Pasquale, Baglietto, Maria G., Zara, Federico, Smith, Nicholas J., Pridmore, Clair, Gardella, Elena, Nikanorova, Marina, Dahl, Hans Atli, Gellert, Pia, Scheffer, Ingrid E., Gunning, Boudewijn, Kragh‐Olsen, Bente, Dibbens, Leanne M.
Published in Epilepsia (Copenhagen) (01.09.2015)
Published in Epilepsia (Copenhagen) (01.09.2015)
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Journal Article
Mutations in KCNT 1 cause a spectrum of focal epilepsies
Møller, Rikke S., Heron, Sarah E., Larsen, Line H. G., Lim, Chiao Xin, Ricos, Michael G., Bayly, Marta A., van Kempen, Marjan J. A., Klinkenberg, Sylvia, Andrews, Ian, Kelley, Kent, Ronen, Gabriel M., Callen, David, McMahon, Jacinta M., Yendle, Simone C., Carvill, Gemma L., Mefford, Heather C., Nabbout, Rima, Poduri, Annapurna, Striano, Pasquale, Baglietto, Maria G., Zara, Federico, Smith, Nicholas J., Pridmore, Clair, Gardella, Elena, Nikanorova, Marina, Dahl, Hans Atli, Gellert, Pia, Scheffer, Ingrid E., Gunning, Boudewijn, Kragh‐Olsen, Bente, Dibbens, Leanne M.
Published in Epilepsia (Copenhagen) (01.09.2015)
Published in Epilepsia (Copenhagen) (01.09.2015)
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Journal Article
Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes: 15q13.3 CNV as a Genetic Modifier?
Mulley, John C., Scheffer, Ingrid E., Desai, Tarishi, Bayly, Marta A., Grinton, Bronwyn E., Vears, Danya F., Berkovic, Samuel F., Dibbens, Leanne M.
Published in Epilepsia (Copenhagen) (01.10.2011)
Published in Epilepsia (Copenhagen) (01.10.2011)
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Journal Article
Epilepsy and mental retardation limited to females : an under-recognized disorder. Commentary
LINDHOUT, Dick, SCHEFFER, Ingrid E, ULLMANN, Reinhard, ROPERS, Hans-Hilger, SZEPETOWSKI, Pierre, HAAN, Eric, MAZARIB, Aziz, AFAWI, Zaid, NEUFELD, Miriam Y, ANDREWS, P. Ian, WALLACE, Geoffrey, KIVITY, Sara, TURNER, Samantha J, LEV, Dorit, LERMAN-SAGIE, Tally, DERRY, Christopher P, KORCZYN, Amos D, GECZ, Jozef, MULLEY, John C, BERKOVIC, Samuel F, DIBBENS, Leanne M, BAYLY, Marta A, FRIEND, Kathryn, HODGSON, Bree, BURROWS, Linda, SHAW, Marie, CHEN WEI
Published in Brain (London, England : 1878) (2008)
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Published in Brain (London, England : 1878) (2008)
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A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2
Perandones, Claudia, Micheli, Federico E, Pellene, Luis A, Bayly, Marta A, Berkovic, Samuel F, Dibbens, Leanne M
Published in Movement disorders : official journal of the Movement Disorder Society (01.08.2012)
Published in Movement disorders : official journal of the Movement Disorder Society (01.08.2012)
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