Does long‐term phenytoin have a place in Dravet syndrome? by George A. Zographos, Sophie J. Russ‐Hall, Ingrid E. Scheffer

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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

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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

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Heterogeneous nuclear ribonucleoprotein U (HNRNPU) safeguards the developing mouse cortex by Tamar Sapir, Aditya Kshirsagar, Anna Gorelik, Tsviya Olender, Ziv Porat, Ingrid E. Scheffer, David B. Goldstein, Orrin Devinsky, Orly Reiner

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Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy by Rebekah de Nys, Clare L. van Eyk, Tarin Ritchie, Rikke S. Møller, Ingrid E. Scheffer, Carla Marini, Rudrarup Bhattacharjee, Raman Kumar, Jozef Gecz

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Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype by Krysta J. Trevis, Natasha J. Brown, Cherie C. Green, Paul J. Lockhart, Tarishi Desai, Tanya Vick, Vicki Anderson, Emmanuel P. K. Pua, Melanie Bahlo, Martin B. Delatycki, Ingrid E. Scheffer, Sarah J. Wilson

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Mosaic variants detectable in blood extend the clinicogenetic spectrum of GLI3-related hypothalamic hamartoma by Timothy E. Green, Mark F. Bennett, Ilka Immisch, Jeremy L. Freeman, Karl Martin Klein, John F. Kerrigan, Lata Vadlamudi, Erin L. Heinzen, Ingrid E. Scheffer, A. Simon Harvey, Felix Rosenow, Michael S. Hildebrand, Samuel F. Berkovic

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Applying the ILAE diagnostic criteria for Lennox‐Gastaut syndrome in the real‐world setting: A multicenter retrospective cohort study by Russell Nightscales, Zhibin Chen, Sarah Barnard, Clarissa Auvrez, Gerard Tao, Shobi Sivathamboo, Caitlin Bennett, Maria Rychkova, Wendyl D'Souza, Samuel F. Berkovic, John‐Paul Nicolo, Terence J. O'Brien, Piero Perucca, Ingrid E. Scheffer, Patrick Kwan

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Functional correlates of clinical phenotype and severity in recurrent SCN2A variants by Géza Berecki, Katherine B. Howell, Jacqueline Heighway, Nelson Olivier, Jill Rodda, Isabella Overmars, Danique R. M. Vlaskamp, Tyson L. Ware, Simone Ardern-Holmes, Gaetan Lesca, Michael Alber, Pierangelo Veggiotti, Ingrid E. Scheffer, Samuel F. Berkovic, Markus Wolff, Steven Petrou

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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

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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

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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

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Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery by Karen L. Oliver, Colin A. Ellis, Ingrid E. Scheffer, Shiva Ganesan, Costin Leu, Lynette G. Sadleir, Erin L. Heinzen, Heather C. Mefford, Andrew J. Bass, Sarah W. Curtis, Rebekah V. Harris, David C. Whiteman, Ingo Helbig, Ruth Ottman, Michael P. Epstein, Melanie Bahlo, Samuel F. Berkovic

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The role of common genetic variation in presumed monogenic epilepsies by Ciarán Campbell, Costin Leu, Yen-Chen Anne Feng, Stefan Wolking, Claudia Moreau, Colin Ellis, Shiva Ganesan, Helena Martins, Karen Oliver, Isabelle Boothman, Katherine Benson, Anne Molloy, Lawrence Brody, Jacques L. Michaud, Fadi F. Hamdan, Berge A. Minassian, Holger Lerche, Ingrid E. Scheffer, Sanjay Sisodiya, Simon Girard, Patrick Cosette, Norman Delanty, Dennis Lal, Gianpiero L. Cavalleri

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Aicardi Syndrome Is a Genetically Heterogeneous Disorder by Thuong T. Ha, Rosemary Burgess, Morgan Newman, Ching Moey, Simone A. Mandelstam, Alison E. Gardner, Atma M. Ivancevic, Duyen Pham, Raman Kumar, Nicholas Smith, Chirag Patel, Stephen Malone, Monique M. Ryan, Sophie Calvert, Clare L. van Eyk, Michael Lardelli, Samuel F. Berkovic, Richard J. Leventer, Linda J. Richards, Ingrid E. Scheffer, Jozef Gecz, Mark A. Corbett

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Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase. by Lily Paemka, Vinit B Mahajan, Salleh N Ehaideb, Jessica M Skeie, Men Chee Tan, Shu Wu, Allison J Cox, Levi P Sowers, Jozef Gecz, Lachlan Jolly, Polly J Ferguson, Benjamin Darbro, Amy Schneider, Ingrid E Scheffer, Gemma L Carvill, Heather C Mefford, Hatem El-Shanti, Stephen A Wood, J Robert Manak, Alexander G Bassuk

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Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group by Joerg Klepper, Cigdem Akman, Marisa Armeno, Stéphane Auvin, Mackenzie Cervenka, Helen J. Cross, Valentina De Giorgis, Adela Della Marina, Kristin Engelstad, Nicole Heussinger, Eric H. Kossoff, Wilhelmina G. Leen, Baerbel Leiendecker, Umrao R. Monani, Hirokazu Oguni, Elizabeth Neal, Juan M. Pascual, Toni S. Pearson, Roser Pons, Ingrid E. Scheffer, Pierangelo Veggiotti, Michél Willemsen, Sameer M. Zuberi, Darryl C. De Vivo

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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

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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

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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

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