The genetic basis of music ability

by Tan, Yi Ting, McPherson, Gary E., Peretz, Isabelle, Berkovic, Samuel F., Wilson, Sarah J.
Published 2014

In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery

by Oliver, Karen L., Lukic, Vesna, Freytag, Saskia, Scheffer, Ingrid E., Berkovic, Samuel F., Bahlo, Melanie
Published 2016

Harnessing Gene Expression Networks to Prioritize Candidate Epileptic Encephalopathy Genes

by Oliver, Karen L., Lukic, Vesna, Thorne, Natalie P., Berkovic, Samuel F., Scheffer, Ingrid E., Bahlo, Melanie
Published 2014

The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures

by Mulley, John C., Iona, Xenia, Hodgson, Bree, Heron, Sarah E., Berkovic, Samuel F., Scheffer, Ingrid E., Dibbens, Leanne M.
Published 2011

Progressive myoclonus epilepsy associated with SACS gene mutations

by Nascimento, Fábio A., Canafoglia, Laura, Aljaafari, Danah, Muona, Mikko, Lehesjoki, Anna-Elina, Berkovic, Samuel F., Franceschetti, Silvana, Andrade, Danielle M.
Published 2016

Abnormal Processing of Autophagosomes in Transformed B Lymphocytes from SCARB2-Deficient Subjects

by 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 2013

A variant of KCC2 from patients with febrile seizures impairs neuronal Cl− extrusion and dendritic spine formation

by Puskarjov, Martin, Seja, Patricia, Heron, Sarah E, Williams, Tristiana C, Ahmad, Faraz, Iona, Xenia, Oliver, Karen L, Grinton, Bronwyn E, Vutskits, Laszlo, Scheffer, Ingrid E, Petrou, Steven, Blaesse, Peter, Dibbens, Leanne M, Berkovic, Samuel F, Kaila, Kai
Published 2014

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

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, Scheffer, Ingrid E, Mefford, Heather C
Published 2013

PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

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, Petrou, Steven, Bahlo, Melanie, Berkovic, Samuel F
Published 2015

Epileptic spasms are a feature of DEPDC5 mTORopathy

by Carvill, Gemma L., Crompton, Douglas E., Regan, Brigid M., McMahon, Jacinta M., Saykally, Julia, Zemel, Matthew, Schneider, Amy L., Dibbens, Leanne, Howell, Katherine B., Mandelstam, Simone, Leventer, Richard J., Harvey, A. Simon, Mullen, Saul A., Berkovic, Samuel F., Sullivan, Joseph, Scheffer, Ingrid E., Mefford, Heather C.
Published 2015

Loss of synaptic Zn2+ transporter function increases risk of febrile seizures

by Hildebrand, Michael S., Phillips, A. Marie, Mullen, Saul A., Adlard, Paul A., Hardies, Katia, Damiano, John A., Wimmer, Verena, Bellows, Susannah T., McMahon, Jacinta M., Burgess, Rosemary, Hendrickx, Rik, Weckhuysen, Sarah, Suls, Arvid, De Jonghe, Peter, Scheffer, Ingrid E., Petrou, Steven, Berkovic, Samuel F., Reid, Christopher A.
Published 2015

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5

by Scerri, Thomas, Riseley, Jessica R, Gillies, Greta, Pope, Kate, Burgess, Rosemary, Mandelstam, Simone A, Dibbens, Leanne, Chow, Chung W, Maixner, Wirginia, Harvey, Anthony Simon, Jackson, Graeme D, Amor, David J, Delatycki, Martin B, Crino, Peter B, Berkovic, Samuel F, Scheffer, Ingrid E, Bahlo, Melanie, Lockhart, Paul J, Leventer, Richard J
Published 2015

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

by Leu, Costin, Balestrini, Simona, Maher, Bridget, Hernández-Hernández, Laura, Gormley, Padhraig, Hämäläinen, Eija, Heggeli, Kristin, Schoeler, Natasha, Novy, Jan, Willis, Joseph, Plagnol, Vincent, Ellis, Rachael, Reavey, Eleanor, O'Regan, Mary, Pickrell, William O., Thomas, Rhys H., Chung, Seo-Kyung, Delanty, Norman, McMahon, Jacinta M., Malone, Stephen, Sadleir, Lynette G., Berkovic, Samuel F., Nashef, Lina, Zuberi, Sameer M., Rees, Mark I., Cavalleri, Gianpiero L., Sander, Josemir W., Hughes, Elaine, Helen Cross, J., Scheffer, Ingrid E., Palotie, Aarno, Sisodiya, Sanjay M.
Published 2015

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

by Carvill, Gemma L., Heavin, Sinéad B., Yendle, Simone C., McMahon, Jacinta M., O’Roak, Brian J., Cook, Joseph, Khan, Adiba, Dorschner, Michael O, Weaver, Molly, Calvert, Sophie, Malone, Stephen, Wallace, Geoffrey, Stanley, Thorsten, Bye, Ann M. E., Bleasel, Andrew, Howell, Katherine B., Kivity, Sara, Mackay, Mark T., Rodriguez-Casero, Victoria, Webster, Richard, Korczyn, Amos, Afawi, Zaid, Zelnick, Nathanel, Lerman-Sagie, Tally, Lev, Dorit, Møller, Rikke S., Gill, Deepak, Andrade, Danielle M., Freeman, Jeremy L., Sadleir, Lynette G., Shendure, Jay, Berkovic, Samuel F., Scheffer, Ingrid E., Mefford, Heather C.
Published 2013

Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy

by Allen, Andrew S., Berkovic, Samuel F., Coe, Bradley P., Cook, Joseph, Cossette, Patrick, Delanty, Norman, Dlugos, Dennis, Eichler, Evan E., Epstein, Michael P., Glauser, Tracy, Goldstein, David B., Heinzen, Erin L., Johnson, Michael R., Krumm, Nik, Kuzniecky, Ruben, Lowenstein, Daniel H., Marson, Anthony G., Mefford, Heather C., Nelson, Ben, Esmaeeli Nieh, Sahar, O'Brien, Terence J., Ottman, Ruth, Petrou, Stephen, Petrovski, Slavé, Poduri, Annapurna, Raja, Archana, Ruzzo, Elizabeth K., Scheffer, Ingrid E., Sherr, Elliott, Abou‐Khalil, Bassel, Alldredge, Brian K., Andermann, Eva, Andermann, Frederick, Amron, Dina, Bautista, Jocelyn F., Berkovic, Samuel F., Boro, Alex, Cascino, Gregory, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Fiol, Miguel, Fountain, Nathan B., French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glauser, Tracy, Glynn, Simon, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Knowlton, Robert C., Kossoff, Eric H., Kuperman, Rachel, Kuzniecky, Ruben, Lowenstein, Daniel H., McGuire, Shannon M., Motika, Paul V., Novotny, Edward J., Ottman, Ruth, Paolicchi, Juliann M., Parent, Jack, Park, Kristen, Poduri, Annapurna, Scheffer, Ingrid E., Shellhaas, Renée A., Sherr, Elliott, Shih, Jerry J., Singh, Rani, Sirven, Joseph, Smith, Michael C., Sullivan, Joe, Thio, Liu Lin, Venkat, Anu, Vining, Eileen P.G., Von Allmen, Gretchen K., Weisenberg, Judith L., Widdess‐Walsh, Peter, Winawer, Melodie R.
Published 2015

CHD2 variants are a risk factor for photosensitivity in epilepsy

by Galizia, Elizabeth C., Myers, Candace T., Leu, Costin, de Kovel, Carolien G. F., Afrikanova, Tatiana, Cordero-Maldonado, Maria Lorena, Martins, Teresa G., Jacmin, Maxime, Drury, Suzanne, Krishna Chinthapalli, V., Muhle, Hiltrud, Pendziwiat, Manuela, Sander, Thomas, Ruppert, Ann-Kathrin, Møller, Rikke S., Thiele, Holger, Krause, Roland, Schubert, Julian, Lehesjoki, Anna-Elina, Nürnberg, Peter, Lerche, Holger, Palotie, Aarno, Coppola, Antonietta, Striano, Salvatore, Gaudio, Luigi Del, Boustred, Christopher, Schneider, Amy L., Lench, Nicholas, Jocic-Jakubi, Bosanka, Covanis, Athanasios, Capovilla, Giuseppe, Veggiotti, Pierangelo, Piccioli, Marta, Parisi, Pasquale, Cantonetti, Laura, Sadleir, Lynette G., Mullen, Saul A., Berkovic, Samuel F., Stephani, Ulrich, Helbig, Ingo, Crawford, Alexander D., Esguerra, Camila V., Kasteleijn-Nolst Trenité, Dorothee G. A., Koeleman, Bobby P. C., Mefford, Heather C., Scheffer, Ingrid E., Sisodiya, Sanjay M.
Published 2015

TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features

by Balestrini, Simona, Milh, Mathieu, Castiglioni, Claudia, Lüthy, Kevin, Finelli, Mattea J., Verstreken, Patrik, Cardon, Aaron, Stražišar, Barbara Gnidovec, Holder, J. Lloyd, Lesca, Gaetan, Mancardi, Maria M., Poulat, Anne L., Repetto, Gabriela M., Banka, Siddharth, Bilo, Leonilda, Birkeland, Laura E., Bosch, Friedrich, Brockmann, Knut, Cross, J. Helen, Doummar, Diane, Félix, Temis M., Giuliano, Fabienne, Hori, Mutsuki, Hüning, Irina, Kayserili, Hulia, Kini, Usha, Lees, Melissa M., Meenakshi, Girish, Mewasingh, Leena, Pagnamenta, Alistair T., Peluso, Silvio, Mey, Antje, Rice, Gregory M., Rosenfeld, Jill A., Taylor, Jenny C., Troester, Matthew M., Stanley, Christine M., Ville, Dorothee, Walkiewicz, Magdalena, Falace, Antonio, Fassio, Anna, Lemke, Johannes R., Biskup, Saskia, Tardif, Jessica, Ajeawung, Norbert F., Tolun, Aslihan, Corbett, Mark, Gecz, Jozef, Afawi, Zaid, Howell, Katherine B., Oliver, Karen L., Berkovic, Samuel F., Scheffer, Ingrid E., de Falco, Fabrizio A., Oliver, Peter L., Striano, Pasquale, Zara, Federico, Campeau, Phillipe M., Sisodiya, S.M.
Published 2016

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A

by Kasperavičiūtė, Dalia, Catarino, Claudia B., Matarin, Mar, Leu, Costin, Novy, Jan, Tostevin, Anna, Leal, Bárbara, Hessel, Ellen V. S., Hallmann, Kerstin, Hildebrand, Michael S., Dahl, Hans-Henrik M., Ryten, Mina, Trabzuni, Daniah, Ramasamy, Adaikalavan, Alhusaini, Saud, Doherty, Colin P., Dorn, Thomas, Hansen, Jörg, Krämer, Günter, Steinhoff, Bernhard J., Zumsteg, Dominik, Duncan, Susan, Kälviäinen, Reetta K., Eriksson, Kai J., Kantanen, Anne-Mari, Pandolfo, Massimo, Gruber-Sedlmayr, Ursula, Schlachter, Kurt, Reinthaler, Eva M., Stogmann, Elisabeth, Zimprich, Fritz, Théâtre, Emilie, Smith, Colin, O’Brien, Terence J., Meng Tan, K., Petrovski, Slave, Robbiano, Angela, Paravidino, Roberta, Zara, Federico, Striano, Pasquale, Sperling, Michael R., Buono, Russell J., Hakonarson, Hakon, Chaves, João, Costa, Paulo P., Silva, Berta M., da Silva, António M., de Graan, Pierre N. E., Koeleman, Bobby P. C., Becker, Albert, Schoch, Susanne, von Lehe, Marec, Reif, Philipp S., Rosenow, Felix, Becker, Felicitas, Weber, Yvonne, Lerche, Holger, Rössler, Karl, Buchfelder, Michael, Hamer, Hajo M., Kobow, Katja, Coras, Roland, Blumcke, Ingmar, Scheffer, Ingrid E., Berkovic, Samuel F., Weale, Michael E., Delanty, Norman, Depondt, Chantal, Cavalleri, Gianpiero L., Kunz, Wolfram S., Sisodiya, Sanjay M.
Published 2013