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

Early neuroimaging markers of FOXP2 intragenic deletion

by Liégeois, Frédérique J., Hildebrand, Michael S., Bonthrone, Alexandra, Turner, Samantha J., Scheffer, Ingrid E., Bahlo, Melanie, Connelly, Alan, Morgan, Angela T.
Published 2016

Variants in KCNJ11 and BAD do not predict response to ketogenic dietary therapies for epilepsy

by Schoeler, Natasha E., Leu, Costin, White, Jon, Plagnol, Vincent, Ellard, Sian, Matarin, Mar, Yellen, Gary, Thiele, Elizabeth A., Mackay, Mark, McMahon, Jacinta M., Scheffer, Ingrid E., Sander, Josemir W., Cross, J. Helen, Sisodiya, Sanjay M.
Published 2015

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

Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology

by Catarino, Claudia B., Liu, Joan Y.W., Liagkouras, Ioannis, Gibbons, Vaneesha S., Labrum, Robyn W., Ellis, Rachael, Woodward, Cathy, Davis, Mary B., Smith, Shelagh J., Cross, J. Helen, Appleton, Richard E., Yendle, Simone C., McMahon, Jacinta M., Bellows, Susannah T., Jacques, Thomas S., Zuberi, Sameer M., Koepp, Matthias J., Martinian, Lillian, Scheffer, Ingrid E., Thom, Maria, Sisodiya, Sanjay M.
Published 2011

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

Definition and diagnostic criteria of sleep-related hypermotor epilepsy

by Tinuper, Paolo, Bisulli, Francesca, Cross, J.H., Hesdorffer, Dale, Kahane, Philippe, Nobili, Lino, Provini, Federica, Scheffer, Ingrid E., Tassi, Laura, Vignatelli, Luca, Bassetti, Claudio, Cirignotta, Fabio, Derry, Christopher, Gambardella, Antonio, Guerrini, Renzo, Halasz, Peter, Licchetta, Laura, Mahowald, Mark, Manni, Raffaele, Marini, Carla, Mostacci, Barbara, Naldi, Ilaria, Parrino, Liborio, Picard, Fabienne, Pugliatti, Maura, Ryvlin, Philippe, Vigevano, Federico, Zucconi, Marco, Berkovic, Samuel, Ottman, Ruth
Published 2016

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

Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase

by Paemka, Lily, Mahajan, Vinit B., Ehaideb, Salleh N., Skeie, Jessica M., Tan, Men Chee, Wu, Shu, Cox, Allison J., Sowers, Levi P., Gecz, Jozef, Jolly, Lachlan, Ferguson, Polly J., Darbro, Benjamin, Schneider, Amy, Scheffer, Ingrid E., Carvill, Gemma L., Mefford, Heather C., El-Shanti, Hatem, Wood, Stephen A., Manak, J. Robert, Bassuk, Alexander G.
Published 2015

Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy

by McTague, Amy, Nair, Umesh, Malhotra, Shalini, Meyer, Esther, Trump, Natalie, Gazina, Elena V., Papandreou, Apostolos, Ngho, Adeline, Ackermann, Sally, Ambegaonkar, Gautam, Appleton, Richard, Desurkar, Archana, Eltze, Christin, Kneen, Rachel, Kumar, Ajith V., Lascelles, Karine, Montgomery, Tara, Ramesh, Venkateswaran, Samanta, Rajib, Scott, Richard H., Tan, Jeen, Whitehouse, William P., Poduri, Annapurna, Scheffer, Ingrid E., Chong, W.K. “Kling ”, Cross, J.Helen, Topf, M, Petrou, S, Kurian, Manju A.
Published 2018

Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy

by McTague, Amy, Nair, Umesh, Malhotra, Sony, Meyer, Esther, Trump, Natalie, Gazina, Elena V., Papandreou, Apostolos, Ngho, Adeline, Ackermann, Sally, Ambegaonkar, Gautam, Appleton, Richard, Desurkar, Archana, Eltze, Christin, Kneen, Rachel, Kumar, Ajith V., Lascelles, Karine, Montgomery, Tara, Ramesh, Venkateswaran, Samanta, Rajib, Scott, Richard H., Tan, Jeen, Whitehouse, William, Poduri, Annapurna, Scheffer, Ingrid E., Chong, W.K. “Kling ”, Cross, J.Helen, Topf, Maya, Petrou, Steven, Kurian, Manju A.
Published 2018

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

by Martin, Hilary C., Kim, Grace E., Pagnamenta, Alistair T., Murakami, Yoshiko, Carvill, Gemma L., Meyer, Esther, Copley, Richard R., Rimmer, Andrew, Barcia, Giulia, Fleming, Matthew R., Kronengold, Jack, Brown, Maile R., Hudspith, Karl A., Broxholme, John, Kanapin, Alexander, Cazier, Jean-Baptiste, Kinoshita, Taroh, Nabbout, Rima, Bentley, David, McVean, Gil, Heavin, Sinéad, Zaiwalla, Zenobia, McShane, Tony, Mefford, Heather C., Shears, Deborah, Stewart, Helen, Kurian, Manju A., Scheffer, Ingrid E., Blair, Edward, Donnelly, Peter, Kaczmarek, Leonard K., Taylor, Jenny C.
Published 2014

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

by Stödberg, Tommy, McTague, Amy, Ruiz, Arnaud J., Hirata, Hiromi, Zhen, Juan, Long, Philip, Farabella, Irene, Meyer, Esther, Kawahara, Atsuo, Vassallo, Grace, Stivaros, Stavros M., Bjursell, Magnus K., Stranneheim, Henrik, Tigerschiöld, Stephanie, Persson, Bengt, Bangash, Iftikhar, Das, Krishna, Hughes, Deborah, Lesko, Nicole, Lundeberg, Joakim, Scott, Rod C., Poduri, Annapurna, Scheffer, Ingrid E., Smith, Holly, Gissen, Paul, Schorge, Stephanie, Reith, Maarten E. A., Topf, Maya, Kullmann, Dimitri M., Harvey, Robert J., Wedell, Anna, Kurian, Manju A.
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