Incorporating epilepsy genetics into clinical practice: a 360°evaluation

מאת 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.
הוצא לאור ב NPJ Genom Med (2018)

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

מאת 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
הוצא לאור ב J Med Genet (2018)

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

מאת 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
יצא לאור 2013

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

מאת 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
יצא לאור 2013

Risk factors for reading disability in rolandic epilepsy families

מאת 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
הוצא לאור ב Epilepsy Behav (2015)

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

מאת 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.
הוצא לאור ב EBioMedicine (2015)

Clinical spectrum of STX1B-related epileptic disorders

מאת 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
הוצא לאור ב Neurology (2019)