Miss Susannah Bellows

No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy

H Schulz, A Ruppert, F Zara, F Madia, M Iacomino, M S. Vari, G Balagura, C Minetti, P Striano, A Bianchi, C Marini, R Guerrini, Y Weber, F Becker, H Lerche, C Kapser, C Schankin, W Kunz, R Møller, K Oliver, S Bellows, S Mullen, S Berkovic, I Scheffer, H Caglayan, U Ozbek, P Hoffmann, S Schramm, D Tsortouktzidis, A Becker, T Sander

(2019), Vol. 60, pp. e31-e36, Epilepsia, Chichester, Eng., C1

Epilepsy in families: Age at onset is a familial trait, independent of syndrome

C Ellis, L Churilov, M Epstein, S Xie, S Bellows, R Ottman, S Berkovic

(2019), Vol. 86, pp. 91-98, Annals of Neurology, London, Eng., C1

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

Y Feng, D Howrigan, L Abbott, K Tashman, F Cerrato, T Singh, H Heyne, A Byrnes, C Churchhouse, N Watts, M Solomonson, D Lal, E Heinzen, R Dhindsa, K Stanley, G Cavalleri, H Hakonarson, I Helbig, R Krause, P May, S Bellows, Epi25 Collaborative

(2019), Vol. 105, pp. 267-282, American journal of human genetics, Cambridge, Ma., C1

Quantitative analysis of phenotypic elements augments traditional electroclinical classification of common familial epilepsies

B Abou-Khalil, Z Afawi, A Allen, J Bautista, S Bellows, S Berkovic, J Bluvstein, R Burgess, G Cascino, P Cossette, S Cristofaro, D Crompton, N Delanty, O Devinsky, D Dlugos, C Ellis, M Epstein, N Fountain, C Freyer, E Geller, T Glauser, S Glynn, H Goldberg-Stern, D Goldstein, M Gravel, K Haas, S Haut, E Heinzen, H Kirsch, S Kivity, R Knowlton, A Korczyn, E Kossoff, R Kuzniecky, R Loeb, D Lowenstein, A Marson, M McCormack, K McKenna, H Mefford, P Motika, S Mullen, T J. O'Brien, R Ottman, J Paolicchi, J Parent, S Paterson, S Petrou, S Petrovski, W Owen Pickrell, A Poduri, M Rees, L Sadleir, I Scheffer, J Shih, R Singh, J Sirven, M Smith, P Smith, L Thio, R Thomas, A Venkat, E Vining, G Von Allmen, J Weisenberg, P Widdess-Walsh, M Winawer

(2019), Vol. 60, pp. 2194-2203, Epilepsia, Chichester, Eng., C1

Sleeping sound with autism spectrum disorder (ASD): study protocol for an efficacy randomised controlled trial of a tailored brief behavioural sleep intervention for ASD

N Papadopoulos, E Sciberras, H Hiscock, K Williams, J McGillivray, C Mihalopoulos, L Engel, M Fuller-Tyszkiewicz, S Bellows, D Marks, P Howlin, N Rinehart

(2019), Vol. 9, pp. 1-12, BMJ Open, London, Eng., C1

Genetic epilepsy with febrile seizures plus: refining the spectrum

Y-H Zhang, R Burgess, J Malone, G Glubb, K Helbig, L Vadlamudi, S Kivity, Z Afawi, A Bleasel, P Grattan-Smith, B Grinton, S Bellows, D Vears, J Damiano, H Goldberg-Stern, A Korczyn, L Dibbens, E Ruzzo, M Hildebrand, S Berkovic, I Scheffer

(2017), Vol. 89, pp. 1210-1219, Neurology, Philadelphia, Pa., C1-1

Phenotypic analysis of 303 multiplex families with common epilepsies

Epi4K Consortium, B Abou-Khalil, Z Afawi, A Allen, J Bautista, S Bellows, S Berkovic, J Bluvstein, R Burgess, G Cascino, E Cops, P Cossette, D Crompton, N Delanty, O Devinsky, D Dluglos, M Epstein, N Fountain, C Freyer, S Garry, E Geller, T Glauser, S Gynn, H Goldberg-Stern, D Goldstein, M Gravel, K Haas, S Haut, E Heinzen, H Kirsch, S Kivity, R Knowlton, A Korczyn, E Kossoff, R Kuzniecky, R Loeb, D Lowenstein, A Marson, M McCormack, K McKenna, H Mefford, P Motika, S Mullen, T O'Brien, R Ottman, J Paolicchi, J Parent, S Paterson, S Petrovski, W Pickrell, A Poduri, M Rees, L Sadleir, I Scheffer, J Shih, R Singh, J Sirven, M Smith, P Smith, L Thio, R Thomas, A Venkat, E Vining, G Von Allmen, J Weisenberg, P Widdess-Walsh, M Winawer

(2017), Vol. 140, pp. 2144-2156, Brain, Oxford, England, C1-1

Familial mesial temporal lobe epilepsy and the borderland of déjà vu

P Perucca, D Crompton, S Bellows, A McIntosh, T Kalincik, M Newton, F Vajda, I Scheffer, P Kwan, T O'Brien, K Tan, S Berkovic

(2017), Vol. 82, pp. 166-176, Annals of Neurology, Hoboken, N.J., C1-1

Evaluation of GLUT1 variation in non-acquired focal epilepsy

A Peeraer, J Damiano, S Bellows, I Scheffer, S Berkovic, S Mullen, M Hildebrand

(2017), Vol. 133, pp. 54-57, Epilepsy Research, Amsterdam, The Netherlands, C1-1

Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

Epi4K consortium, Epilepsy Phenome/Genome Project

(2017), Vol. 16, pp. 135-143, Lancet neurology, Amsterdam, The Netherlands, C1

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy

Mark Corbett, Susannah Bellows, Melody Li, Renée Carroll, Silvana Micallef, Gemma Carvill, Candace Myers, Katherine Howell, Snezana Maljevic, Holger Lerche, Elena Gazina, Heather Mefford, Melanie Bahlo, Samuel Berkovic, Steven Petrou, Ingrid Scheffer, Jozef Gecz

(2016), Vol. 87, pp. 1975-1984, Neurology, New York, N. Y., C1-1

Evaluation of non-coding variation in GLUT1 deficiency

Yu-Chi Liu, Jia Lee, Susannah Bellows, John Damiano, Saul Mullen, Samuel Berkovic, Melanie Bahlo, Ingrid Scheffer, Michael Hildebrand, Clinical Group

(2016), Vol. 58, pp. 1295-1302, Developmental Medicine & Child Neurology, Chichester, Eng., C1-1

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

Michael Hildebrand, A Phillips, Saul Mullen, Paul Adlard, Katia Hardies, John Damiano, Verena Wimmer, Susannah Bellows, Jacinta McMahon, Rosemary Burgess, Rik Hendrickx, Sarah Weckhuysen, Arvid Suls, Peter De Jonghe, Ingrid Scheffer, Steven Petrou, Samuel Berkovic, Christopher Reid

(2015), Vol. 5, pp. 1-9, Scientific reports, London, Eng., C1

Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy

John Damiano, Saul Mullen, Michael Hildebrand, Susannah Bellows, Kate Lawrence, Todor Arsov, Leanne Dibbens, Heather Major, Hans-Henrik Dahl, Heather Mefford, Benjamin Darbro, Ingrid Scheffer, Samuel Berkovic

(2015), Vol. 117, pp. 70-73, Epilepsy research, Amsterdam, The Netherlands, C1

Glucose metabolism transporters and epilepsy: only GLUT1 has an established role

Michael Hildebrand, John Damiano, Saul Mullen, Susannah Bellows, Karen Oliver, Hans-Henrik Dahl, Ingrid Scheffer, Samuel Berkovic

(2014), Vol. 55, pp. e18-e21, Epilepsia, Chichester, Eng., C1

Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline

Young Kim, Susannah Bellows, Jacinta McMahon, Xenia Iona, John Damiano, Leanne Dibbens, Kent Kelley, Deepak Gill, J Cross, Samuel Berkovic, Ingrid Scheffer

(2014), Vol. 56, pp. 85-90, Developmental medicine & child neurology, Chichester, Eng., C1-1

Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations

Lynette Sadleir, Dahbia Agher, Elodie Chabrol, Léa Elkouby, Eric Leguern, Sarah Paterson, Rosie Harty, Susannah Bellows, Samuel Berkovic, Ingrid Scheffer, Stéphanie Baulac

(2013), Vol. 107, pp. 311-317, Epilepsy research, Amsterdam, The Netherlands, C1-1

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability

Saul Mullen, Gemma Carvill, Susannah Bellows, Marta Bayly, Holger Trucks, Dennis Lal, Thoman Sander, Samuel Berkovic, Leanne Dibbens, Ingrid Scheffer, Heather Mefford

(2013), Vol. 81, pp. 1507-1514, Neurology, New York, N.Y., C1-1

Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome

John Mulley, Bree Hodgson, Jacinta McMahon, Xenia Iona, Susannah Bellows, Saul Mullen, Kevin Farrell, Mark Mackay, Lynette Sadleir, Andrew Bleasel, Deepak Gill, Richard Webster, Elaine Wirrell, Michael Harbord, Sanyjay Sisodiya, Eva Andermann, Sara Kivity, Samuel Berkovic, Ingrid Scheffer, Leanne Dibbens

(2013), Vol. 54, pp. e122-e126, Epilepsia, Chichester, Eng., C1-1

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

Leanne Dibbens, Boukje de Vries, Simona Donatello, Sarah Heron, Bree Hodgson, Satyan Chintawar, Douglas Crompton, James Hughes, Susannah Bellows, Karl Klein, Petra Callenbach, Mark Corbett, Alison Gardner, Sara Kivity, Xenia Iona, Brigid Regan, Claudia Weller, Denis Crimmins, Terence O'Brien, Rosa Guerrero-López, John Mulley, Francois Dubeau, Laura Licchetta, Francesca Bisulli, Patrick Cossette, Paul Thomas, Jozef Gecz, Jose Serratosa, Oebele Brouwer, Frederick Andermann, Eva Andermann, Arn van den Maagdenberg, Massimo Pandolfo, Samuel Berkovic, Ingrid Scheffer

(2013), Vol. 45, pp. 546-551, Nature genetics, London, Eng., C1-1

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

EPICURE Consortium, EMINet Consortium, Michael Steffens, Costin Leu, Ann-Kathrin Ruppert, Federico Zara, Pasquale Striano, Angela Robbiano, Giuseppe Capovilla, Paolo Tinuper, Antonio Gambardella, Amedeo Bianchi, Angela La Neve, Giovanni Crichiutti, Carolien de Kovel, Dorothée Kasteleijn-Nolst Trenité, Gerrit-Jan de Haan, Dick Lindhout, Verena Gaus, Bettina Schmitz, Dieter Janz, Yvonne Weber, Felicitas Becker, Holger Lerche, Bernhard Steinhoff, Ailing Kleefuß-Lie, Wolfram Kunz, Rainer Surges, Christian Elger, Hiltrud Muhle, Sarah von Spiczak, Philipp Ostertag, Ingo Helbig, Ulrich Stephani, Rikke Møller, Helle Hjalgrim, Leanne Dibbens, Susannah Bellows, Karen Oliver, Saul Mullen, Ingrid Scheffer, Samuel Berkovic, Kate Everett, Mark Gardiner, Carla Marini, Renzo Guerrini, Anna-Elina Lehesjoki, Auli Siren, Michel Guipponi, Alain Malafosse, Pierre Thomas, Rima Nabbout, Stephanie Baulac, Eric Leguern, Rosa Guerrero, Jose Serratosa, Philipp Reif, Felix Rosenow, Martina Mörzinger, Martha Feucht, Fritz Zimprich, Claudia Kapser, Christoph Schankin, Arvid Suls, Katrin Smets, Peter De Jonghe, Albena Jordanova, Hande Caglayan, Zuhal Yapici, Destina Yalcin, Betul Baykan, Nerses Bebek, Ugur Ozbek, Christian Gieger, Heinz-Erich Wichmann, Tobias Balschun, David Ellinghaus, Andre Franke, Christian Meesters, Tim Becker, Thomas Wienker, Anne Hempelmann, Herbert Schulz, Franz Rüschendorf, Markus Leber, Steffen Pauck, Holger Trucks, Mohammad Toliat, Peter Nürnberg, Giuliano Avanzini, Bobby Koeleman, Thomas Sander

(2012), Vol. 21, pp. 5359-5372, Human molecular genetics, Oxford, Eng., C1-1

Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus

Douglas Crompton, Lynette Sadleir, Catherine Bromhead, Melanie Bahlo, Susannah Bellows, Todor Arsov, Rosemary Harty, Kate Lawrence, John Dunne, Samuel Berkovic, Ingrid Scheffer

(2012), Vol. 69, pp. 474-481, Archives of neurology, Chicago, Ill., C1

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

C Catarino, J Liu, I Liagkouras, V Gibbons, R Labrum, R Ellis, C Woodward, M Davis, S Smith, J Cross, R Appleton, S Yendle, J McMahon, S Bellows, T Jacques, S Zuberi, M Koepp, L Martinian, I Scheffer, M Thom, S Sisodiya

(2011), Vol. 134, pp. 2982-3010, Brain, Oxford, Eng., C1-1

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

L Dibbens, S Mullen, I Helbig, H Mefford, M Bayly, S Bellows, C Leu, H Trucks, T Obermeier, M Wittig, A Franke, H Caglayan, Z Yapici, T Sander, E Eichler, I Scheffer, J Mulley, S Berkovic, P De Jonghe, A Suls, H Hjalgrim, J Madsen, R Møller, A Lehesjoki, A Siren, V Gaus, D Janz, B Schmitz, C Elger, K Hallmann, A Kleefuß-Lie, W Kunz, A Raabe, H Muhle, P Ostertag, S von Spiczak, U Stephani, H Lerche, Y Weber, P Striano, F Zara, C Marini, E Brilstra, D Kastelijn-Nolst Trenité, B Koeleman, C de Kovel, D Lindhout, M Swinkels, O Yalcin, B Baykan, D Turkdogan, G Dizdarer, C Ozkara, Y Lee, J Müller-Quernheim, R Fölster-Holst, S Hofmann, A Nebel, S Schreiber, M Schürmann, E Rodriguez, S Weidinger, H Baurecht, B Lie, K Boberg, T Karlsen

(2009), Vol. 18, pp. 3626-3631, Human molecular genetics, Oxford, Eng., C1-1