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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Practical considerations for the use of fenfluramine to manage patients with Dravet syndrome or Lennox–Gastaut syndrome in clinical practice by Elaine C. Wirrell, Lieven Lagae, Ingrid E. Scheffer, J. Helen Cross, Nicola Specchio, Adam Strzelczyk

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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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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

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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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Seizures in Sotos syndrome: Phenotyping in 49 patients by Olivier Fortin, Christian Vincelette, Afsheen Q. Khan, Saoussen Berrahmoune, Christelle Dassi, Mitra Karimi, Ingrid E. Scheffer, Jun Lu, Kellie Davis, Kenneth A. Myers

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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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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

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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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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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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

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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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