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

por Ellis, Colin A., Churilov, Leonid, Epstein, Michael P., Xie, Sharon X., Bellows, Susannah T., Ottman, Ruth, Berkovic, Samuel F.
Publicado en Ann Neurol (2019)

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

por Mullen, Saul A., Carvill, Gemma L., Bellows, Susannah, Bayly, Marta A., Berkovic, Samuel F., Dibbens, Leanne M., Scheffer, Ingrid E., Mefford, Heather C.
Publicado 2013

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

por Papadopoulos, Nicole, Sciberras, Emma, Hiscock, Harriet, Williams, Katrina, McGillivray, Jane, Mihalopoulos, Cathrine, Engel, Lidia, Fuller-Tyszkiewicz, Matthew, Bellows, Susannah T, Marks, Deborah, Howlin, Patricia, Rinehart, Nicole
Publicado en BMJ Open (2019)

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy

por Corbett, Mark A., Bellows, Susannah T., Li, Melody, Carroll, Renée, Micallef, Silvana, Carvill, Gemma L., Myers, Candace T., Howell, Katherine B., Maljevic, Snezana, Lerche, Holger, Gazina, Elena V., Mefford, Heather C., Bahlo, Melanie, Berkovic, Samuel F., Petrou, Steven, Scheffer, Ingrid E., Gecz, Jozef
Publicado en Neurology (2016)

Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families

por Bennett, Mark F., Oliver, Karen L., Regan, Brigid M., Bellows, Susannah T., Schneider, Amy L., Rafehi, Haloom, Sikta, Neblina, Crompton, Douglas E., Coleman, Matthew, Hildebrand, Michael S., Corbett, Mark A., Kroes, Thessa, Gecz, Jozef, Scheffer, Ingrid E., Berkovic, Samuel F., Bahlo, Melanie
Publicado en Eur J Hum Genet (2020)

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

por Dibbens, Leanne M., Mullen, Saul, Helbig, Ingo, Mefford, Heather C., Bayly, Marta A., Bellows, Susannah, Leu, Costin, Trucks, Holger, Obermeier, Tanja, Wittig, Michael, Franke, Andre, Caglayan, Hande, Yapici, Zuhal, Sander, Thomas, Eichler, Evan E., Scheffer, Ingrid E., Mulley, John C., Berkovic, Samuel F.
Publicado 2009

Loss of synaptic Zn(2+) transporter function increases risk of febrile seizures

por 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.
Publicado en Sci Rep (2015)

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

por 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.
Publicado 2011