Chipping away at the common epilepsies with complex genetics: the 15q13.3 microdeletion shows the way

por Mulley, John C, Dibbens, Leanne M
Publicado 2009

Genetic variations and associated pathophysiology in the management of epilepsy

por Mulley, John C, Dibbens, Leanne M
Publicado 2011

Chromosomal Instability Causes Sensitivity to Polyamines and One-Carbon Metabolism

por Islam, Anowarul, Shaukat, Zeeshan, Newman, David L., Hussain, Rashid, Ricos, Michael G., Dibbens, Leanne, Gregory, Stephen L.
Publicado 2023

The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures

por Mulley, John C., Iona, Xenia, Hodgson, Bree, Heron, Sarah E., Berkovic, Samuel F., Scheffer, Ingrid E., Dibbens, Leanne M.
Publicado 2011

Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling

por Hughes, James, Dawson, Ruby, Tea, Melinda, McAninch, Dale, Piltz, Sandra, Jackson, Dominique, Stewart, Laura, Ricos, Michael G., Dibbens, Leanne M., Harvey, Natasha L., Thomas, Paul
Publicado 2017

Mild malformations of cortical development in sleep‐related hypermotor epilepsy due to KCNT1 mutations

por Rubboli, Guido, Plazzi, Giuseppe, Picard, Fabienne, Nobili, Lino, Hirsch, Edouard, Chelly, Jamel, Prayson, Richard A., Boutonnat, Jean, Bramerio, Manuela, Kahane, Philippe, Dibbens, Leanne M., Gardella, Elena, Baulac, Stéphanie, Møller, Rikke S.
Publicado 2018

Abnormal Processing of Autophagosomes in Transformed B Lymphocytes from SCARB2-Deficient Subjects

por Gleich, Kurt, Desmond, Michael J., Lee, Darren, Berkovic, Samuel F., Dibbens, Leanne M., Katerelos, Marina, Bayly, Marta A., Fraser, Scott A., Martinello, Paul, Vears, Danya F., Mount, Peter, Power, David A.
Publicado 2013

Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity

por Rychkov, Grigori Y., Shaukat, Zeeshan, Lim, Chiao Xin, Hussain, Rashid, Roberts, Ben J., Bonardi, Claudia M., Rubboli, Guido, Meaney, Brandon F., Whitney, Robyn, Møller, Rikke S., Ricos, Michael G., Dibbens, Leanne M.
Publicado 2022

A variant of KCC2 from patients with febrile seizures impairs neuronal Cl(−) extrusion and dendritic spine formation

por Puskarjov, Martin, Seja, Patricia, Heron, Sarah E, Williams, Tristiana C, Ahmad, Faraz, Iona, Xenia, Oliver, Karen L, Grinton, Bronwyn E, Vutskits, Laszlo, Scheffer, Ingrid E, Petrou, Steven, Blaesse, Peter, Dibbens, Leanne M, Berkovic, Samuel F, Kaila, Kai
Publicado 2014

Single Nucleotide Variations in CLCN6 Identified in Patients with Benign Partial Epilepsies in Infancy and/or Febrile Seizures

por Yamamoto, Toshiyuki, Shimojima, Keiko, Sangu, Noriko, Komoike, Yuta, Ishii, Atsushi, Abe, Shinpei, Yamashita, Shintaro, Imai, Katsumi, Kubota, Tetsuo, Fukasawa, Tatsuya, Okanishi, Tohru, Enoki, Hideo, Tanabe, Takuya, Saito, Akira, Furukawa, Toru, Shimizu, Toshiaki, Milligan, Carol J., Petrou, Steven, Heron, Sarah E., Dibbens, Leanne M., Hirose, Shinichi, Okumura, Akihisa
Publicado 2015

Epileptic spasms are a feature of DEPDC5 mTORopathy

por Carvill, Gemma L., Crompton, Douglas E., Regan, Brigid M., McMahon, Jacinta M., Saykally, Julia, Zemel, Matthew, Schneider, Amy L., Dibbens, Leanne, Howell, Katherine B., Mandelstam, Simone, Leventer, Richard J., Harvey, A. Simon, Mullen, Saul A., Berkovic, Samuel F., Sullivan, Joseph, Scheffer, Ingrid E., Mefford, Heather C.
Publicado 2015

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5

por Scerri, Thomas, Riseley, Jessica R, Gillies, Greta, Pope, Kate, Burgess, Rosemary, Mandelstam, Simone A, Dibbens, Leanne, Chow, Chung W, Maixner, Wirginia, Harvey, Anthony Simon, Jackson, Graeme D, Amor, David J, Delatycki, Martin B, Crino, Peter B, Berkovic, Samuel F, Scheffer, Ingrid E, Bahlo, Melanie, Lockhart, Paul J, Leventer, Richard J
Publicado 2015