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 em 2013

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 no Neurology (2016)

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 em 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 no 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 em 2011