NHMRC Australia Fellowship

Loss of synaptic Zn2 transporter function increases risk of febrile seizures

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

2015-12-09

Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome

Bronwyn E Grinton, Sarah E Heron, James T Pelekanos, Sameer M Zuberi, Sara Kivity, Zaid Afawi, Tristiana C Williams, Dan M Casalaz, Simone Yendle, Ilan Linder, Dorit Lev, Tally Lerman-Sagie, Stephen Malone, Haim Bassan, Hadassa Goldberg-Stern, Thorsten Stanley, Michael Hayman, Sophie Calvert, Amos D Korczyn, Michael Shevell

2015-07-01

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

Eva M Reinthaler, Dennis Lal, Sebastien Lebon, Michael S Hildebrand, Hans-Henrik M Dahl, Brigid M Regan, Martha Feucht, Hannelore Steinboeck, Birgit Neophytou, Gabriel M Ronen, Laurian Roche, Ursula Gruber-Sedlmayr, Julia Geldner, Edda Haberlandt, Per Hoffmann, Stefan Herms, Christian Gieger, Melanie Waldenberger, Andre Franke, Michael Wittig

2014-11-15

Genetics of epilepsy The testimony of twins in the molecular era

Lata Vadlamudi, Roger L Milne, Kate Lawrence, Sarah E Heron, Jazmin Eckhaus, Deborah Keay, Mary Connellan, Yvonne Torn-Broers, R Anne Howell, John C Mulley, Ingrid E Scheffer, Leanne M Dibbens, John L Hopper, Samuel F Berkovic

2014-09-16

KCNT1 Gain of Function in 2 Epilepsy Phenotypes is Reversed by Quinidine

Carol J Milligan, Melody Li, Elena V Gazina, Sarah E Heron, Umesh Nair, Chantel Trager, Christopher A Reid, Anu Venkat, Donald P Younkin, Dennis J Dlugos, Slave Petrovski, David B Goldstein, Leanne M Dibbens, Ingrid E Scheffer, Samuel F Berkovic, Steven Petrou

2014-04-01

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

Michael S Hildebrand, John A Damiano, Saul A Mullen, Susannah T Bellows, Karen L Oliver, Hans-Henrik M Dahl, Ingrid E Scheffer, Samuel F Berkovic

2014-02-01

Multiple Symmetrical Lipomatosis - A mitochondrial disorder of brown fat

C Plummer, PJ Spring, R Marotta, J Chin, G Taylor, D Sharpe, NA Athanasou, D Thyagarajan, SF Berkovic

2013-07-01

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

Leanne M Dibbens, Boukje de Vries, Simona Donatello, Sarah E Heron, Bree L Hodgson, Satyan Chintawar, Douglas E Crompton, James N Hughes, Susannah T Bellows, Karl Martin Klein, Petra MC Callenbach, Mark A Corbett, Alison E Gardner, Sara Kivity, Xenia Iona, Brigid M Regan, Claudia M Weller, Denis Crimmins, Terence J O'Brien, Rosa Guerrero-Lopez

2013-05-01

Recent advances in the molecular genetics of epilepsy

Michael S Hildebrand, Hans-Henrik M Dahl, John Anthony Damiano, Richard JH Smith, Ingrid E Scheffer, Samuel F Berkovic

2013-05-01

SCN1A testing for epilepsy: Application in clinical practice

Shinichi Hirose, Ingrid E Scheffer, Carla Marini, Peter De Jonghe, Eva Andermann, Alica M Goldman, Marcelo Kauffman, Nigel CK Tan, Daniel H Lowenstein, Sanjay M Sisodiya, Ruth Ottman, Samuel F Berkovic

2013-05-01

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

Katherine R Smith, Hans-Henrik M Dahl, Laura Canafoglia, Eva Andermann, John Damiano, Michela Morbin, Amalia C Bruni, Giorgio Giaccone, Patrick Cossette, Paul Saftig, Joachim Groetzinger, Michael Schwake, Frederick Andermann, John F Staropoli, Katherine B Sims, Sara E Mole, Silvana Franceschetti, Noreen A Alexander, Jonathan D Cooper, Harold A Chapman

2013-04-01

'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation

Lysa Boisse Lomax, Marta A Bayly, Helle Hjalgrim, Rikke S Moller, Annemarie M Vlaar, Kari M Aaberg, Iris Marquardt, Luke C Gandolfo, Michel Willemsen, Erik-Jan Kamsteeg, John D O'Sullivan, G Christoph Korenke, Bastiaan R Bloem, Irenaeus F de Coo, Judith MA Verhagen, Ines Said, Trine Prescott, Asbjorg Stray-Pedersen, Magnhild Rasmussen, Danya F Vears

2013-04-01

Multiple molecular mechanisms for a single GABA(A) mutation in epilepsy

Christopher A Reid, Taehwan Kim, A Marie Phillips, Jun Low, Samuel F Berkovic, Bernhard Luscher, Steven Petrou

2013-03-01

Bilateral Posterior Periventricular Nodular Heterotopia: A Recognizable Cortical Malformation with a Spectrum of Associated Brain Abnormalities

SA Mandelstam, RJ Leventer, A Sandow, G McGillivray, M van Kogelenberg, R Guerrini, S Robertson, SF Berkovic, GD Jackson, IE Scheffer

2013-02-01

Clinical genetic study of the epilepsy-aphasia spectrum

Meng-Han Tsai, Danya F Vears, Samantha J Turner, Robert L Smith, Samuel F Berkovic, Lynette G Sadleir, Ingrid E Scheffer

2013-02-01

CORTICAL EXCITABILITY AND REFRACTORY EPILEPSY: A THREE-YEAR LONGITUDINAL TRANSCRANIAL MAGNETIC STIMULATION STUDY

Radwa AB Badawy, Graeme D Jackson, Samuel F Berkovic, Richard AL Macdonell

2013-02-01

Siblings with refractory occipital epilepsy showing localized network activity on EEG-fMRI

Patrick W Carney, A Simon Harvey, Samuel F Berkovic, Graeme D Jackson, Ingrid E Scheffer

2013-02-01

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

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 GF de Kovel, Dorothee Kasteleijn-Nolst Trenite, Gerrit-Jan de Haan, Dick Lindhout, Verena Gaus, Bettina Schmitz, Dieter Janz, Yvonne G Weber

2012-12-15

Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency

Todor Arsov, Saul A Mullen, John A Damiano, Kate M Lawrence, Linda L Huh, Melinda Nolan, Helen Young, Anais Thouin, Hans-Henrik M Dahl, Samuel F Berkovic, Douglas E Crompton, Lynette G Sadleir, Ingrid E Scheffer

2012-12-01

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

Sarah E Heron, Katherine R Smith, Melanie Bahlo, Lino Nobili, Esther Kahana, Laura Licchetta, Karen L Oliver, Aziz Mazarib, Zaid Afawi, Amos Korczyn, Giuseppe Plazzi, Steven Petrou, Samuel F Berkovic, Ingrid E Scheffer, Leanne M Dibbens

2012-11-01

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

Ingrid E Scheffer, Bronwyn E Grinton, Sarah E Heron, Sara Kivity, Zaid Afawi, Xenia Iona, Hadassa Goldberg-Stern, Maria Kinali, Ian Andrews, Renzo Guerrini, Carla Marini, Lynette G Sadleir, Samuel F Berkovic, Leanne M Dibbens

2012-11-01

Sodium channels and the neurobiology of epilepsy

Megan Oliva, Samuel F Berkovic, Steven Petrou

2012-11-01

In vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remission

Susan E Tomlinson, Hugh Bostock, Bronwyn Grinton, Michael G Hanna, Dimitri M Kullmann, Matthew C Kiernan, Ingrid E Scheffer, Samuel F Berkovic, David Burke

2012-10-01

Psychological trajectories in the year after a newly diagnosed seizure

Sarah L Velissaris, Michael M Saling, Mark R Newton, Samuel F Berkovic, Sarah J Wilson

2012-10-01

Epi4K: Gene discovery in 4,000 genomes

Sam Berkovic, Patrick Cossette, Norman Delanty, Dennis Dlugos, Evan Eichler, Michael Epstein, Tracy Glauser, David Goldstein, Erin Heinzen, Michael R Johnson, Ruben Kuzniecky, Daniel Lowenstein, Tony Marson, Heather Mefford, Terence O'Brien, Ruth Ottman, Ann Poduri, Ingrid Scheffer, Elliott Sherr, Kevin Shianna

2012-08-01

Familial focal epilepsy with variable foci mapped to chromosome 22q12: Expansion of the phenotypic spectrum

Karl Martin Klein, Terence J O'Brien, Kavita Praveen, Sarah E Heron, John C Mulley, Simon Foote, Samuel F Berkovic, Ingrid E Scheffer

2012-08-01

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

Katherine R Smith, John Damiano, Silvana Franceschetti, Stirling Carpenter, Laura Canafoglia, Michela Morbin, Giacomina Rossi, Davide Pareyson, Sara E Mole, John F Staropoli, Katherine B Sims, Jada Lewis, Wen-Lang Lin, Dennis W Dickson, Hans-Henrik Dahl, Melanie Bahlo, Samuel F Berkovic

2012-06-08

PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

Sarah E Heron, Bronwyn E Grinton, Sara Kivity, Zaid Afawi, Sameer M Zuberi, James N Hughes, Clair Pridmore, Bree L Hodgson, Xenia Iona, Lynette G Sadleir, James Pelekanos, Eric Herlenius, Hadassa Goldberg-Stern, Haim Bassan, Eric Haan, Amos D Korczyn, Alison E Gardner, Mark A Corbett, Jozef Gecz, Paul Q Thomas

2012-01-13