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Ingrid E. Scheffer

University of Melbourne

141H-index
1.0KPaper Count
8.9WCitation Count
Published Papers 514
Publication Date
How should etiology change the classification of the epilepsies? Report from the ILAE 2021–2025 Terminology Commission
err2026-09-30
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errNicola Specchio; Stéphane Auvin; Francesca Bisulli; Scott Demarest; Elena Gardella; Angelina Kakooza Mwesige; Rima Nabbout; Alshimaa S. Othman; Kollencheri Puthenveettil Vinayan; Robyn Whitney; Elaine Wirrell; Hideo Yamanouchi; Ji Yeoun Yoo; Sameer M. Zuberi; J. Helen Cross; Ingrid E. Scheffer
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Early sodium channel blocker initiation is associated with better outcomes in KCNQ2 disorders
errBrain
IF11.7
err2026-08-18
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errCharissa Millevert; Megan Hairabedian; Samuel Dahan; Johannes Lemke; Steffen Syrbe; Eugenia Roza; Raluca Ioana Teleanu; Laura Licchetta; Duccio M Cordelli; Francesca Bisulli; Trine B Hammer; Magdalena Krygier; Marta Pietruszka; Maria Mazurkiewicz-Bełdzińska; Safa Mete Dagdas; Pinar Gencpinar; Carmen Fons; Dídac Casas-Alba; Edward C Cooper; Maurizio Taglialatela; Béatrice Desnous; Nathalie Villeneuve; Anne Lépine; Stéphane Auvin; Cyril Mignot; Dorothée Ville; Anne de Saint Martin; Claire Bar; Caroline Hachon le Camus; Laurent Villard; Laurence Chaton; Patrick Van Bogaert; Jérémie Lefranc; Gaëtan Lesca; Silvia Napuri; Mathieu Kuchenbuch; Caroline Perriard; Blandine Dozieres; Bénédicte Héron; Annie Ting-Gee Chiu; Ingrid E Scheffer; KCNQ2 study group; Mathieu Milh; Sarah Weckhuysen; null
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On-site exposure to clinical epilepsy practice for experimental scientists engaged in epilepsy research: A pilot study by the ILAE commission on neurobiology
err2026-06-01
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errMarco de Curtis; Giulia Battaglia; Gustavo Aguado-Carrillo; Eleonora Aronica; Melody Asukile; Simona Balestrini; Carmen Barba; Tobias Baumgartner; Albert J. Becker; Francesca Bisulli; Patricia Braga; Nihan Carcak; Esper Cavalheiro; Norman Delanty; Lorenzo Ferri; Alon Friedman; Daniel Friedman; Marian Galovic; Jennifer N. Gelinas; Brenda Giagante; Rodrigo Henriquez-Ch; Veena Kander; Silvia Kochen; David Krysl; Martin Kudr; Akio Ikeda; Mariana Legnani; Yicong Lin; Iris Martinez-Juarez; Lorenzo Muccioli; Naluca Mwendaweli; Silvia Oddo; Çigdem Özkara; Jose Eduardo Peixoto-Santos; Piero Perucca; Heidrun Potschka; Luisa Rocha; Helen Scharfman; Ingrid E. Scheffer; Rainer Surges; Chanez Charfi Triki; Reinaldo Uribe-San-Martin; Kette Valente; Erwin A. van Vliet; Yuping Wang; Benjamin Whatley; Jo M. Wilmshurst; Elza Marcia Yacubian; Alessandro De Rossi; Stefano de Curtis; Premysl Jiruska; David C. Henshall
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KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity
err2026-05-04
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errTrupti Jadhav; Sophie E. Bouffler; Emily Innes; Michael Fahey; Matthew Hunter; Kavitha Kothur; Sebastian Lunke; Matthew Lynch; Emma Macdonald-Laurs; Elizabeth Emma Palmer; Chirag Patel; Jason Pinner; Kate Riney; Rani Sachdev; Sarah A. Sandaradura; Ingrid E. Scheffer; Zornitza Stark; Katherine B. Howell
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Developmental stuttering with common and complex phenotypes
err2026-02-23
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errSarah E. Horton; Daisy A. Shepherd; Stephanie Siemers; Miya St John; Juliette Catherall; Ingrid E. Scheffer; Angela T. Morgan
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Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy
err2026-02-05
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errMarsha Tan; Beatrice Southby Goad; Meagan Allen; Jill Rodda; Kay L. Richards; Simone L. Ardern-Holmes; Daniel Bamborschke; Daniel Fritzen; Inna Hughes; Kate Riney; Ana Roche Martinez; Angelo Russo; Adriane Sinclair; Stefano Sartori; Marina Trivisano; Angela De Dominicis; Nicola Specchio; Rikke S. Møller; Ingrid E. Scheffer; Walid Fazeli; Markus Wolff; Steven Petrou; Katherine B. Howell; Géza Berecki
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Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive
err2026-01-16
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PREAI
errJohannesen, Katrine M.; Aung, Khaing Phyu; Liao, Vivian W. Y.; Absalom, Nathan; Chua, Han C.; Gan, Xue N.; Mao, Miaomiao; McKenzie, Chaseley E.; Lee, Hian M.; Ortiz, Sebastian; Spillmann, Rebecca C.; Shashi, Vandana; Radtke, Rodney A.; Mirzaa, Ghayda M.; Weisner, P. Anne; Daboub, Josue Flores; Hagedorn, Caroline; Bayrak-Toydemir, Pinar; DeMille, Desiree; Zhao, Jian; Bajaj, Nandita; Capri, Yline; Keren, Boris; Schmidts, Miriam; van de Laar, Ingrid M. B. H.; van Slegtenhorst, Marjon A.; Ploski, Rafal; Bogotko, Marta; Bourque, Danielle K.; Alkhunaizi, Ebba; Chad, Lauren; Quercia, Nada; Elloumi, Houda; Wentzensen, Ingrid M.; Kruer, Michael C.; Bisarad, Pritha; Galaz-Montoya, Carolina I.; Rusu, Violeta; Braun, Dominique; Angione, Katie; Win, Jessica C.; Espinosa-Jovel, Camilo; Zacher, Pia; Platzer, Konrad; Berkovic, Samuel F.; Scheffer, Ingrid E.; Chebib, Mary; Rubboli, Guido; Moller, Rikke S.; Reid, Christopher A.; Ahring, Philip K.
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Childhood motor speech disorders: who to prioritise for genetic testing
err2026-01-13
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errHalianna Van Niel; Mariana Lauretta; Emma Baker; Lorraine O’Donnell; Charlotte Boulton; Celia Brenchley; David Coman; Evyenia Michellis; Himanshu Goel; Geoff Thompson; Richard Webster; Georgia Paxton; Zornitza Stark; Ingrid E. Scheffer; Michael S. Hildebrand; David J. Amor; Angela T. Morgan
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Bilateral frontal periventricular nodular heterotopia: a distinctive cortical malformation
err2025-12-01
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PREAI
errHoogwijs, Ine; Mandelstam, Simone A.; Mcgillivray, George; Halliday, Benjamin J.; Yiu, Eppie M.; Macdonald-Laurs, Emma; Perry, David; Patel, Rakesh; Gabbett, Michael; Patel, Chirag; Malone, Stephen; Fahey, Michael; Gill, Deepak; Field, Mike; Delatycki, Martin B.; Mohammad, Shekeeb; Berkovic, Samuel F.; Scheffer, Ingrid E.; Lockhart, Paul J.; Jackson, Graeme D.; Jansen, Anna C.; Robertson, Stephen P.; Leventer, Richard J.
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Identification of an episignature for the MEF2C-associated syndrome
err2025-11-25
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PREAI
errAnanília Silva; Sadegheh Haghshenas; Liselot van der Laan; Michael A. Levy; Raissa Relator; Haley McConkey; Jennifer Kerkhof; Steve A. Skinner; Laurence Faivre; James Lespinasse; Antonio Vitobello; Irene Valenzuela; Ingrid E. Scheffer; Sophie J. Russ-Hall; Kenneth A. Myers; Matthew L. Tedder; Bekim Sadikovic; Jessica A. Cooley Coleman
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Cognitive stagnation and executive function deficits in young children with SCN1A+ Dravet syndrome: Detailed characterization of onset, progression, and impact in the ENVISION natural history study
err2025-11-01
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errSullivan, Joseph; Perry, M. Scott; Scheffer, Ingrid E.; Wheless, James; Boronat, Susana; Brunklaus, Andreas; Laux, Linda; Patel, Anup D.; Roberts, Colin; Dlugos, Dennis; Holder, Deborah; Knupp, Kelly; Lallas, Matt; Phillips, Steven; Segal, Eric; Lal, Dennis; Wirrell, Elaine; Zuberi, Sameer; Gioia, Gerard; Shaffer, Rebecca; Berl, Madison M.; Wojnaroski, Mary; Christensen, Sarah; King, Alexander; James, Emma S.; Vila, Maria Candida; Huang, Norman; Gofshteyn, Jacqueline S.; Rico, Salvador
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Bexicaserin for the treatment of seizures in developmental and epileptic encephalopathies: A phase 1b/2a trial (PACIFIC)
err2025-10-24
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errDennis J. Dlugos; Ingrid E. Scheffer; Jacqueline A. French; David G. Vossler; Chad Orevillo; Shikha Polega; Randall Kaye; and the LP352-201 Study Investigators
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Pharmacological and dietary treatments for developmental stuttering: a systematic review
err2025-10-15
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PREAI
errSarah Horton; Elana J. Forbes; Ingrid Scheffer; Sheena Reilly; Daisy A. Shepherd; Angela T. Morgan
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SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder
err2025-10-10
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errMaggie M. K. Wong; Rosalie A. Kampen; Ruth O. Braden; Gökberk Alagöz; Michael S. Hildebrand; Alexander J. M. Dingemans; Jean Corbally; Joery den Hoed; Ezequiel Mendoza; Willemijn J. J. Claassen; Christopher Barnett; Meghan Barnett; Alfredo Brusco; Diana Carli; Bert B. A. de Vries; Frances Elmslie; Giovanni Battista Ferrero; Nadieh A. Jansen; Ingrid M. B. H. van de Laar; Alice Moroni; David Mowat; Lucinda Murray; Francesca Novara; Angela Peron; Ingrid E. Scheffer; Fabio Sirchia; Samantha J. Turner; Aglaia Vignoli; Arianna Vino; Sacha Weber; Wendy K. Chung; Marion Gerard; Vanesa López-González; Elizabeth Palmer; Angela T. Morgan; Bregje W. van Bon; Simon E. Fisher
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Atenolol rescues premature mortality in genetic mouse models of sudden unexpected death in epilepsy
err2025-09-24
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PREAI
errMing S. Soh; Amanda Hu; Alibek Kuanyshbek; Erlina S. Mohamed Syazwan; Hian M. Lee; Chaseley E. McKenzie; A. Marie Phillips; Lauren E. Bleakley; Christopher Semsarian; Ingrid E. Scheffer; Samuel F. Berkovic; Christopher A. Reid
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Is there really evidence for neurodegeneration in Dravet syndrome? Commentary on the publication by Selvarajah et al.
err2025-08-05
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PREAI
errSanjay M. Sisodiya; Simona Balestrini; Samuel F. Berkovic; Kailash P. Bhatia; Lisa M. Clayton; J. Helen Cross; Claire Eldred; Antonio Gambardella; Renzo Guerrini; Rima Nabbout; Adam Strzelczyk; Galia Wilson; Ingrid E. Scheffer
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SUDEP risk is influenced by longevity genomics: a polygenic risk score study
err2025-07-28
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errHelena Martins; James D. Mills; Susanna Pagni; Medine I. Gulcebi; Angeliki Vakrinou; Patrick B. Moloney; Lisa M. Clayton; Ravishankara Bellampalli; Hannah Stamberger; Sarah Weckhuysen; Pasquale Striano; Federico Zara; Richard D. Bagnall; Rebekah V. Harris; Kate M. Lawrence; Lynette G. Sadleir; Douglas E. Crompton; Daniel Friedman; Juliana Laze; Ling Li; Samuel F. Berkovic; Christopher Semsarian; Ingrid E. Scheffer; Orrin Devinsky; Karoline Kuchenbaecker; Simona Balestrini; Sanjay M. Sisodiya
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Serial correlation between saliva and blood beta-hydroxybutyrate levels in children commencing the ketogenic diet for epilepsy
err2025-05-24
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errNeha Kaul; Jing Duan; Dong Cui; Michael Erlichster; Zhibin Chen; Dovile Anderson; Jianxiong Chan; Ingrid E. Scheffer; Efstratios Skafidas; Jianxiang Liao; Patrick Kwan
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