Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic atonic seizures
Carvill, Gemma L., McMahon, Jacinta M., Schneider, Amy, Zemel, Matthew, Myers, Candace T., Saykally, Julia, Nguyen, John, Robbiano, Angela, Zara, Federico, Specchio, Nicola, Mecarelli, Oriano, Smith, Robert L., Leventer, Richard J., Møller, Rikke S., Nikanorova, Marina, Dimova, Petia, Jordanova, Albena, Petrou, Steven, Helbig, Ingo, Striano, Pasquale, Weckhuysen, Sarah, Berkovic, Samuel F., Scheffer, Ingrid E., Mefford, Heather C.
Published in American journal of human genetics (07.05.2015)
Published in American journal of human genetics (07.05.2015)
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Journal Article
Rare copy number variants are an important cause of epileptic encephalopathies
Mefford, Heather C., Yendle, Simone C., Hsu, Cynthia, Cook, Joseph, Geraghty, Eileen, McMahon, Jacinta M., Eeg-Olofsson, Orvar, Sadleir, Lynette G., Gill, Deepak, Ben-Zeev, Bruria, Lerman-Sagie, Tally, Mackay, Mark, Freeman, Jeremy L., Andermann, Eva, Pelakanos, James T., Andrews, Ian, Wallace, Geoffrey, Eichler, Evan E., Berkovic, Samuel F., Scheffer, Ingrid E.
Published in Annals of neurology (01.12.2011)
Published in Annals of neurology (01.12.2011)
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Journal Article
The spectrum of SCN1A-related infantile epileptic encephalopathies
Harkin, Louise A., McMahon, Jacinta M., Iona, Xenia, Dibbens, Leanne, Pelekanos, James T., Zuberi, Sameer M., Sadleir, Lynette G., Andermann, Eva, Gill, Deepak, Farrell, Kevin, Connolly, Mary, Stanley, Thorsten, Harbord, Michael, Andermann, Frederick, Wang, Jing, Batish, Sat Dev, Jones, Jeffrey G., Seltzer, William K., Gardner, Alison, Sutherland, Grant, Berkovic, Samuel F., Mulley, John C., Scheffer, Ingrid E.
Published in Brain (London, England : 1878) (01.03.2007)
Published in Brain (London, England : 1878) (01.03.2007)
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Journal Article
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study
Berkovic, Samuel F, Harkin, Louise, McMahon, Jacinta M, Pelekanos, James T, Zuberi, Sameer M, Wirrell, Elaine C, Gill, Deepak S, Iona, Xenia, Mulley, John C, Scheffer, Ingrid E
Published in Lancet neurology (01.06.2006)
Published in Lancet neurology (01.06.2006)
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Journal Article
SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis
Marini, Carla, Scheffer, Ingrid E., Nabbout, Rima, Mei, Davide, Cox, Kathy, Dibbens, Leanne M., McMahon, Jacinta M., Iona, Xenia, Carpintero, Rochio Sanchez, Elia, Maurizio, Cilio, Maria Roberta, Specchio, Nicola, Giordano, Lucio, Striano, Pasquale, Gennaro, Elena, Cross, J. Helen, Kivity, Sara, Neufeld, Miriam Y., Afawi, Zaid, Andermann, Eva, Keene, Daniel, Dulac, Olivier, Zara, Federico, Berkovic, Samuel F., Guerrini, Renzo, Mulley, John C.
Published in Epilepsia (Copenhagen) (01.07.2009)
Published in Epilepsia (Copenhagen) (01.07.2009)
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Journal Article
Loss of synaptic Zn2+ transporter function increases risk of febrile seizures
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 in Scientific reports (09.12.2015)
Published in Scientific reports (09.12.2015)
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Journal Article
Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy
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 in EBioMedicine (01.09.2015)
Published in EBioMedicine (01.09.2015)
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Journal Article
Mortality in Dravet syndrome
Cooper, Monica S, Mcintosh, Anne, Crompton, Douglas E, McMahon, Jacinta M, Schneider, Amy, Farrell, Kevin, Ganesan, Vijeya, Gill, Deepak, Kivity, Sara, Lerman-Sagie, Tally, McLellan, Ailsa, Pelekanos, James, Ramesh, Venkateswaran, Sadleir, Lynette, Wirrell, Elaine, Scheffer, Ingrid E
Published in Epilepsy research (01.12.2016)
Published in Epilepsy research (01.12.2016)
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Journal Article
Genetic Architecture of Idiopathic Generalized Epilepsy: Clinical Genetic Analysis of 55 Multiplex Families
Marini, Carla, Scheffer, Ingrid E., Crossland, Kathryn M., Grinton, Bronwyn E., Phillips, Fiona L., McMahon, Jacinta M., Turner, Samantha J., Dean, Joanne T., Kivity, Sara, Mazarib, Aziz, Neufeld, Miriam Y., Korczyn, Amos D., Harkin, Louise A., Dibbens, Leanne M., Wallace, Robyn H., Mulley, John C., Berkovic, Samuel F.
Published in Epilepsia (Copenhagen) (01.05.2004)
Published in Epilepsia (Copenhagen) (01.05.2004)
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Journal Article
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures
Howell, Katherine B, McMahon, Jacinta M, Carvill, Gemma L, Tambunan, Dimira, Mackay, Mark T, Rodriguez-Casero, Victoria, Webster, Richard, Clark, Damian, Freeman, Jeremy L, Calvert, Sophie, Olson, Heather E, Mandelstam, Simone, Poduri, Annapurna, Mefford, Heather C, Harvey, A Simon, Scheffer, Ingrid E
Published in Neurology (15.09.2015)
Published in Neurology (15.09.2015)
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Do mutations in SCN1B cause Dravet syndrome?
Kim, Young Ok, Dibbens, Leanne, Marini, Carla, Suls, Arvid, Chemaly, Nicole, Mei, Davide, McMahon, Jacinta M, Iona, Xenia, Berkovic, Samuel F, De Jonghe, Peter, Guerrini, Renzo, Nabbout, Rima, Scheffer, Ingrid E
Published in Epilepsy research (01.01.2013)
Published in Epilepsy research (01.01.2013)
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Journal Article
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
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 in Nature genetics (01.07.2013)
Published in Nature genetics (01.07.2013)
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Journal Article
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome
Carvill, Gemma L, Weckhuysen, Sarah, McMahon, Jacinta M, Hartmann, Corinna, Møller, Rikke S, Hjalgrim, Helle, Cook, Joseph, Geraghty, Eileen, O'Roak, Brian J, Petrou, Steve, Clarke, Alison, Gill, Deepak, Sadleir, Lynette G, Muhle, Hiltrud, von Spiczak, Sarah, Nikanorova, Marina, Hodgson, Bree L, Gazina, Elena V, Suls, Arvid, Shendure, Jay, Dibbens, Leanne M, De Jonghe, Peter, Helbig, Ingo, Berkovic, Samuel F, Scheffer, Ingrid E, Mefford, Heather C
Published in Neurology (08.04.2014)
Published in Neurology (08.04.2014)
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Journal Article
The phenotypic spectrum of SCN8A encephalopathy
Larsen, Jan, Carvill, Gemma L, Gardella, Elena, Kluger, Gerhard, Schmiedel, Gudrun, Barisic, Nina, Depienne, Christel, Brilstra, Eva, Mang, Yuan, Nielsen, Jens Erik Klint, Kirkpatrick, Martin, Goudie, David, Goldman, Rebecca, Jähn, Johanna A, Jepsen, Birgit, Gill, Deepak, Döcker, Miriam, Biskup, Saskia, McMahon, Jacinta M, Koeleman, Bobby, Harris, Mandy, Braun, Kees, de Kovel, Carolien G F, Marini, Carla, Specchio, Nicola, Djémié, Tania, Weckhuysen, Sarah, Tommerup, Niels, Troncoso, Monica, Troncoso, Ledia, Bevot, Andrea, Wolff, Markus, Hjalgrim, Helle, Guerrini, Renzo, Scheffer, Ingrid E, Mefford, Heather C, Møller, Rikke S
Published in Neurology (03.02.2015)
Published in Neurology (03.02.2015)
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Journal Article
Sleep problems in Dravet syndrome: a modifiable comorbidity
Licheni, Shane H, Mcmahon, Jacinta M, Schneider, Amy L, Davey, Margot J, Scheffer, Ingrid E
Published in Developmental medicine and child neurology (01.02.2018)
Published in Developmental medicine and child neurology (01.02.2018)
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Journal Article
A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy
Howell, Katherine B., Eggers, Stefanie, Dalziel, Kim, Riseley, Jessica, Mandelstam, Simone, Myers, Candace T., McMahon, Jacinta M., Schneider, Amy, Carvill, Gemma L., Mefford, Heather C., Scheffer, Ingrid E., Harvey, A. Simon
Published in Epilepsia (Copenhagen) (01.06.2018)
Published in Epilepsia (Copenhagen) (01.06.2018)
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Journal Article
The severe epilepsy syndromes of infancy: A population‐based study
Howell, Katherine B., Freeman, Jeremy L., Mackay, Mark T., Fahey, Michael C., Archer, John, Berkovic, Samuel F., Chan, Eunice, Dabscheck, Gabriel, Eggers, Stefanie, Hayman, Michael, Holberton, James, Hunt, Rodney W., Jacobs, Susan E., Kornberg, Andrew J., Leventer, Richard J., Mandelstam, Simone, McMahon, Jacinta M., Mefford, Heather C., Panetta, Julie, Riseley, Jessica, Rodriguez‐Casero, Victoria, Ryan, Monique M., Schneider, Amy L., Smith, Lindsay J., Stark, Zornitza, Wong, Flora, Yiu, Eppie M., Scheffer, Ingrid E., Harvey, A. Simon
Published in Epilepsia (Copenhagen) (01.02.2021)
Published in Epilepsia (Copenhagen) (01.02.2021)
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Journal Article
ADGRV1 is implicated in myoclonic epilepsy
Myers, Kenneth A., Nasioulas, Steven, Boys, Amber, McMahon, Jacinta M., Slater, Howard, Lockhart, Paul, Sart, Desirée du, Scheffer, Ingrid E.
Published in Epilepsia (Copenhagen) (01.02.2018)
Published in Epilepsia (Copenhagen) (01.02.2018)
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Journal Article
Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45
Carvill, Gemma L., Liu, Aijie, Mandelstam, Simone, Schneider, Amy, Lacroix, Amy, Zemel, Matthew, McMahon, Jacinta M., Bello‐Espinosa, Luis, Mackay, Mark, Wallace, Geoffrey, Waak, Michaela, Zhang, Jing, Yang, Xiaoling, Malone, Stephen, Zhang, Yue‐Hua, Mefford, Heather C., Scheffer, Ingrid E.
Published in Epilepsia (Copenhagen) (01.01.2018)
Published in Epilepsia (Copenhagen) (01.01.2018)
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Journal Article
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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