NHMRC Australia Fellowship

Grant number: 466671 | Funding period: 2007 - 2012

Completed

Abstract

I aim to cement my place as the leading clinical and translational researcher in epilepsy internationally. My research and that of my wider group is focused on the integration of high level clinical medicine, molecular genetics and cutting-edge neuroimaging, which is informed and enhanced by clinically relevant basic neuroscience. This integrative model is unique in the epilepsy field. The Fellowship will give me the opportunity to expand this model and optimally utilize the rapidly developing technologies in genetics and imaging which are the two most important and productive fields in clinical neuroscience. I am in a unique international position to do this because of the clinical cohorts ..

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Related publications (27)

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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'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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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Sodium channels and the neurobiology of epilepsy

Megan Oliva, Samuel F Berkovic, Steven Petrou

2012-11-01

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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

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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

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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

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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

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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

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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

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