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

Febrile seizures (FS) are the most common seizure syndrome and are potentially a prelude to more severe epilepsy. Although zinc (Z..

Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy

John A Damiano, Saul A Mullen, Michael S Hildebrand, Susannah T Bellows, Kate M Lawrence, Todor Arsov, Leanne Dibbens, Heather Major, Hans-Henrik M Dahl, Heather C Mefford, Benjamin W Darbro, Ingrid E Scheffer, Samuel F Berkovic

2015-11-01

The chromosome 15q13.3 region has been implicated in epilepsy, intellectual disability and neuropsychiatric disorders, especially ..

Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia

John A Damiano, Zaid Afawi, Melanie Bahlo, Monika Mauermann, Adel Misk, Todor Arsov, Karen L Oliver, Hans-Henrik M Dahl, A Eliot Shearer, Richard JH Smith, Nathan E Hall, Khalid Mahmood, Richard J Leventer, Ingrid E Scheffer, Mikko Muona, Anna-Elina Lehesjoki, Amos D Korczyn, Harald Herrmann, Samuel F Berkovic, Michael S Hildebrand

2015-08-15

We studied a consanguineous Palestinian Arab family segregating an autosomal recessive progressive myoclonus epilepsy (PME) with e..

PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

Michael S Hildebrand, Rick Tankard, Elena V Gazina, John A Damiano, Kate M Lawrence, Hans-Henrik M Dahl, Brigid M Regan, Aiden Eliot Shearer, Richard JH Smith, Carla Marini, Renzo Guerrini, Angelo Labate, Antonio Gambardella, Paolo Tinuper, Laura Lichetta, Sara Baldassari, Francesca Bisulli, Tommaso Pippucci, Ingrid E Scheffer, Christopher A Reid

2015-08-01

OBJECTIVE: Nocturnal frontal lobe epilepsy (NFLE) can be sporadic or autosomal dominant; some families have nicotinic acetylcholin..

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

OBJECTIVE: We evaluated seizure outcome in a large cohort of familial neonatal seizures (FNS), and examined phenotypic overlap wit..

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

Rolandic epilepsy (RE) is the most common idiopathic focal childhood epilepsy. Its molecular basis is largely unknown and a comple..

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

OBJECTIVE: Analysis of twins with epilepsy to explore the genetic architecture of specific epilepsies, to evaluate the applicabili..

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

OBJECTIVE: Mutations in KCNT1 have been implicated in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and epilepsy of ..

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

The availability of glucose, and its glycolytic product lactate, for cerebral energy metabolism is regulated by specific brain tra..

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

Multiple Symmetrical Lipomatosis (MSL) is an unusual disorder characterized by the development of axial lipomas in adulthood. The ..

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

The majority of epilepsies are focal in origin, with seizures emanating from one brain region. Although focal epilepsies often ari..

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

Recent advances in molecular genetics have translated into the increasing utilisation of genetic testing in the routine clinical p..

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

This report is a practical reference guide for genetic testing of SCN1A, the gene encoding the α1 subunit of neuronal voltage-gate..

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

Kufs disease, an adult-onset neuronal ceroid lipofuscinosis, is challenging to diagnose and genetically heterogeneous. Mutations i..

'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

We previously identified a homozygous mutation in the Golgi SNAP receptor complex 2 gene (GOSR2) in six patients with progressive ..

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

OBJECTIVE: To understand the molecular basis and differential penetrance of febrile seizures and absence seizures in patients with..

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

BACKGROUND AND PURPOSE: Bilateral posterior PNH is a distinctive complex malformation with imaging features distinguishing it from..

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

PURPOSE: To characterize the frequency and nature of the family history of seizures in probands with epilepsy falling within the e..

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

Transcranial magnetic stimulation was used to study the effect of recurrent seizures on cortical excitability over time in epileps..

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

The benign occipital epilepsies of childhood include Panayiotopoulos and Gastaut syndromes; a third syndrome, idiopathic photosens..

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

Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3% and account for 20-30% of all epilepsies. Despite their h..

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

Glucose transporter 1 (GLUT1) deficiency caused by mutations of SLC2A1 is an increasingly recognized cause of genetic generalized ..

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

We performed genomic mapping of a family with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and intellectual and psy..

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

OBJECTIVE: Benign familial infantile epilepsy (BFIE) is an autosomal dominant epilepsy syndrome characterized by afebrile seizures..

Sodium channels and the neurobiology of epilepsy

Megan Oliva, Samuel F Berkovic, Steven Petrou

2012-11-01

Voltage-gated sodium channels (VGSCs) are integral membrane proteins. They are essential for normal neurologic function and are, c..

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

Benign familial neonatal epilepsy is a neuronal channelopathy most commonly caused by mutations in KCNQ2, which encodes the K(v)7...

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

PURPOSE: Underdiagnosed depression and anxiety are well-recognized issues in chronic epilepsy, but the evolution of these symptoms..

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

A major challenge in epilepsy research is to unravel the complex genetic mechanisms underlying both common and rare forms of epile..

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

We aimed to refine the phenotypic spectrum and map the causative gene in two families with familial focal epilepsy with variable f..

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

We performed hypothesis-free linkage analysis and exome sequencing in a family with two siblings who had neuronal ceroid lipofusci..

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

Benign familial infantile epilepsy (BFIE) is a self-limited seizure disorder that occurs in infancy and has autosomal-dominant inh..