Incorporating epilepsy genetics into clinical practice: a 360°evaluation

per Oates, Stephanie, Tang, Shan, Rosch, Richard, Lear, Rosalie, Hughes, Elaine F., Williams, Ruth E., Larsen, Line H. G., Hao, Qin, Dahl, Hans Atli, Møller, Rikke S., Pal, Deb K.
Publicat a NPJ Genom Med (2018)

Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses

per Addis, Laura, Sproviero, William, Thomas, Sanjeev V, Caraballo, Roberto H, Newhouse, Stephen J, Gomez, Kumudini, Hughes, Elaine, Kinali, Maria, McCormick, David, Hannan, Siobhan, Cossu, Silvia, Taylor, Jacqueline, Akman, Cigdem I, Wolf, Steven M, Mandelbaum, David E, Gupta, Rajesh, van der Spek, Rick A, Pruna, Dario, Pal, Deb K
Publicat a J Med Genet (2018)

Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum

per McTague, Amy, Appleton, Richard, Avula, Shivaram, Cross, J. Helen, King, Mary D., Jacques, Thomas S., Bhate, Sanjay, Cronin, Anthony, Curran, Andrew, Desurkar, Archana, Farrell, Michael A., Hughes, Elaine, Jefferson, Rosalind, Lascelles, Karine, Livingston, John, Meyer, Esther, McLellan, Ailsa, Poduri, Annapurna, Scheffer, Ingrid E., Spinty, Stefan, Kurian, Manju A., Kneen, Rachel
Publicat 2013

Paediatric autoimmune encephalopathies: clinical features, laboratory investigations and outcomes in patients with or without antibodies to known central nervous system autoantigen...

per Hacohen, Yael, Wright, Sukhvir, Waters, Patrick, Agrawal, Shakti, Carr, Lucinda, Cross, Helen, De Sousa, Carlos, DeVile, Catherine, Fallon, Penny, Gupta, Rajat, Hedderly, Tammy, Hughes, Elaine, Kerr, Tim, Lascelles, Karine, Lin, Jean-Pierre, Philip, Sunny, Pohl, Keith, Prabahkar, Prab, Smith, Martin, Williams, Ruth, Clarke, Antonia, Hemingway, Cheryl, Wassmer, Evangeline, Vincent, Angela, Lim, Ming J
Publicat 2013

Risk factors for reading disability in rolandic epilepsy families

per Vega, Yaiza Hernández, Smith, Anna, Cockerill, Hannah, Tang, Shan, Agirre-Arrizubieta, Zaloa, Goyal, Sushma, Pina, Marisa, Akman, Cigdem I, Jolleff, Nicola, McGinnity, Colm, Gomez, Kumudini, Gupta, Rajesh, Hughes, Elaine, Jackman, John, McCormick, David, Oren, Caroline, Scott, David, Taylor, Jacqueline, Trounce, John, Clarke, Tara, Kugler, Steven, Mandelbaum, David E, McGoldrick, Patricia, Wolf, Steven, Strug, Lisa J, Pal, Deb K
Publicat a Epilepsy Behav (2015)

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

per 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.
Publicat a EBioMedicine (2015)

Clinical spectrum of STX1B-related epileptic disorders

per Wolking, Stefan, May, Patrick, Mei, Davide, Møller, Rikke S., Balestrini, Simona, Helbig, Katherine L., Altuzarra, Cecilia Desmettre, Chatron, Nicolas, Kaiwar, Charu, Stöhr, Katharina, Widdess-Walsh, Peter, Mendelsohn, Bryce A., Numis, Adam, Cilio, Maria R., Van Paesschen, Wim, Svendsen, Lene L., Oates, Stephanie, Hughes, Elaine, Goyal, Sushma, Brown, Kathleen, Sifuentes Saenz, Margarita, Dorn, Thomas, Muhle, Hiltrud, Pagnamenta, Alistair T., Vavoulis, Dimitris V., Knight, Samantha J.L., Taylor, Jenny C., Canevini, Maria Paola, Darra, Francesca, Gavrilova, Ralitza H., Powis, Zöe, Tang, Shan, Marquetand, Justus, Armstrong, Martin, McHale, Duncan, Klee, Eric W., Kluger, Gerhard J., Lowenstein, Daniel H., Weckhuysen, Sarah, Pal, Deb K., Helbig, Ingo, Guerrini, Renzo, Thomas, Rhys H., Rees, Mark I., Lesca, Gaetan, Sisodiya, Sanjay M., Weber, Yvonne G., Lal, Dennis, Marini, Carla, Lerche, Holger, Schubert, Julian
Publicat a Neurology (2019)