Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes.

by Karen L Oliver, Vesna Lukic, Natalie P Thorne, Samuel F Berkovic, Ingrid E Scheffer, Melanie Bahlo
Published 2014-01-01

KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood.

by Kenneth A Myers, Amelia McGlade, Bernd A Neubauer, Dennis Lal, Samuel F Berkovic, Ingrid E Scheffer, Michael S Hildebrand
Published 2018-01-01

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

by John C. Mulley, Xenia Iona, Bree Hodgson, Sarah E. Heron, Samuel F. Berkovic, Ingrid E. Scheffer, Leanne M. Dibbens
Published 2011-01-01

Novel Missense <i>CACNA1G</i> Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy

by Géza Berecki, Katherine L. Helbig, Tyson L. Ware, Bronwyn Grinton, Cara M. Skraban, Eric D. Marsh, Samuel F. Berkovic, Steven Petrou
Published 2020-08-01

The genetic basis of music ability

by Yi Ting eTan, Gary E McPherson, Isabelle ePeretz, Isabelle ePeretz, Samuel F Berkovic, Sarah J Wilson, Sarah J Wilson
Published 2014-06-01

Newly diagnosed seizures assessed at two established first seizure clinics: Clinic characteristics, investigations, and findings over 11 years

by Anne M. McIntosh, K. Meng Tan, Tahir M. Hakami, Mark R. Newton, Patrick W. Carney, Mengjiazhi Yang, Sibel Saya, David J. T. Marco, Piero Perucca, Patrick Kwan, Terence J. O’Brien, Samuel F. Berkovic
Published 2021-03-01

Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?

by Lauren E. Bleakley, Ming S. Soh, Richard D. Bagnall, Richard D. Bagnall, Lynette G. Sadleir, Samuel Gooley, Christopher Semsarian, Christopher Semsarian, Ingrid E. Scheffer, Ingrid E. Scheffer, Ingrid E. Scheffer, Samuel F. Berkovic, Christopher A. Reid
Published 2020-09-01

A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.

by Xiaolin Zhu, Raghavendra Padmanabhan, Brett Copeland, Joshua Bridgers, Zhong Ren, Sitharthan Kamalakaran, Ailbhe O'Driscoll-Collins, Samuel F Berkovic, Ingrid E Scheffer, Annapurna Poduri, Davide Mei, Renzo Guerrini, Daniel H Lowenstein, Andrew S Allen, Erin L Heinzen, David B Goldstein
Published 2017-11-01

Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA

by Wei Shern Lee, Sarah E. M. Stephenson, Katherine B. Howell, Kate Pope, Greta Gillies, Alison Wray, Wirginia Maixner, Simone A. Mandelstam, Samuel F. Berkovic, Ingrid E. Scheffer, Duncan MacGregor, Anthony Simon Harvey, Paul J. Lockhart, Richard J. Leventer
Published 2019-07-01

Loss‐of‐function variants in Kv11.1 cardiac channels as a biomarker for SUDEP

by Ming S. Soh, Richard D. Bagnall, Mark F. Bennett, Lauren E. Bleakley, Erlina S. Mohamed Syazwan, A. Marie Phillips, Mathew D. F. Chiam, Chaseley E. McKenzie, Michael Hildebrand, Douglas Crompton, Melanie Bahlo, Christopher Semsarian, Ingrid E. Scheffer, Samuel F. Berkovic, Christopher A. Reid
Published 2021-07-01

A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration

by Adam C. O’Neill, Christina Kyrousi, Johannes Klaus, Richard J. Leventer, Edwin P. Kirk, Andrew Fry, Daniela T. Pilz, Tim Morgan, Zandra A. Jenkins, Micha Drukker, Samuel F. Berkovic, Ingrid E. Scheffer, Renzo Guerrini, David M. Markie, Magdalena Götz, Silvia Cappello, Stephen P. Robertson
Published 2018-12-01

Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations

by Jillian M. Cameron, Snezana Maljevic, Umesh Nair, Ye Htet Aung, Benjamin Cogné, Stéphane Bézieau, Edward Blair, Bertrand Isidor, Christiane Zweier, André Reis, Mary Kay Koenig, Timothy Maarup, Dean Sarco, Alexandra Afenjar, A. H. M. Mahbubul Huq, Mary Kukolich, Thierry Billette de Villemeur, Caroline Nava, Bénédicte Héron, Steven Petrou, Samuel F. Berkovic
Published 2019-07-01

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

by Sara E. Mole, Angela Schulz, Eben Badoe, Samuel F. Berkovic, Emily C. de Los Reyes, Simon Dulz, Paul Gissen, Norberto Guelbert, Charles M. Lourenco, Heather L. Mason, Jonathan W. Mink, Noreen Murphy, Miriam Nickel, Joffre E. Olaya, Maurizio Scarpa, Ingrid E. Scheffer, Alessandro Simonati, Nicola Specchio, Ina Von Löbbecke, Raymond Y. Wang, Ruth E. Williams
Published 2021-04-01

Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania

by Tyson L. Ware, Shannon R. Huskins, Bronwyn E. Grinton, Yu‐Chi Liu, Mark F. Bennett, Michael Harvey, Jacinta McMahon, Danae Andreopoulos‐Malikotsinas, Melanie Bahlo, Katherine B. Howell, Michael S. Hildebrand, John A. Damiano, Alexander Rosenfeld, Mark T. Mackay, Simone Mandelstam, Richard J. Leventer, A. Simon Harvey, Jeremy L. Freeman, Ingrid E. Scheffer, Dean L. Jones, Samuel F. Berkovic
Published 2019-09-01

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

by Costin Leu, Simona Balestrini, Bridget Maher, Laura Hernández-Hernández, Padhraig Gormley, Eija Hämäläinen, Kristin Heggeli, Natasha Schoeler, Jan Novy, Joseph Willis, Vincent Plagnol, Rachael Ellis, Eleanor Reavey, Mary O'Regan, William O. Pickrell, Rhys H. Thomas, Seo-Kyung Chung, Norman Delanty, Jacinta M. McMahon, Stephen Malone, Lynette G. Sadleir, Samuel F. Berkovic, Lina Nashef, Sameer M. Zuberi, Mark I. Rees, Gianpiero L. Cavalleri, Josemir W. Sander, Elaine Hughes, J. Helen Cross, Ingrid E. Scheffer, Aarno Palotie, Sanjay M. Sisodiya
Published 2015-09-01

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

by Mark A. Corbett, Thessa Kroes, Liana Veneziano, Mark F. Bennett, Rahel Florian, Amy L. Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa, Aaron Wenger, Davide Mei, Manuela Pendziwiat, Sabine Kaya, Massimo Delledonne, Rachel Straussberg, Luciano Xumerle, Brigid Regan, Douglas Crompton, Anne-Fleur van Rootselaar, Anthony Correll, Rachael Catford, Francesca Bisulli, Shreyasee Chakraborty, Sara Baldassari, Paolo Tinuper, Kirston Barton, Shaun Carswell, Martin Smith, Alfredo Berardelli, Renee Carroll, Alison Gardner, Kathryn L. Friend, Ilan Blatt, Michele Iacomino, Carlo Di Bonaventura, Salvatore Striano, Julien Buratti, Boris Keren, Caroline Nava, Sylvie Forlani, Gabrielle Rudolf, Edouard Hirsch, Eric Leguern, Pierre Labauge, Simona Balestrini, Josemir W. Sander, Zaid Afawi, Ingo Helbig, Hiroyuki Ishiura, Shoji Tsuji, Sanjay M. Sisodiya, Giorgio Casari, Lynette G. Sadleir, Riaan van Coller, Marina A. J. Tijssen, Karl Martin Klein, Arn M. J. M. van den Maagdenberg, Federico Zara, Renzo Guerrini, Samuel F. Berkovic, Tommaso Pippucci, Laura Canafoglia, Melanie Bahlo, Pasquale Striano, Ingrid E. Scheffer, Francesco Brancati, Christel Depienne, Jozef Gecz
Published 2019-10-01