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Ingrid E. Scheffer

University of Melbourne and Austin Health

141H-index
1.0KPaper Count
8.9WCitation Count
Published Papers 512
Publication Date
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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
errEpilepsia Open
IF2.9
err2026-06-01
err0
errOAAI
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
errShare
errSave
KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity
errEpilepsia Open
IF2.9
err2026-05-04
err0
errOAAI
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
errShare
errSave
Developmental stuttering with common and complex phenotypes
errdevelopmental medicine & child neurology
IF0
err2026-02-23
err0
errOAAI
errSarah E. Horton; Daisy A. Shepherd; Stephanie Siemers; Miya St John; Juliette Catherall; Ingrid E. Scheffer; Angela T. Morgan
errShare
errSave
Ameliorating Seizures in Dravet Syndrome: A Review of Newly Approved and Investigational Drugs, RNA and Gene-Based Therapies
errCNS Drugs
IF7.4
err2026-02-19
err0
errOAAI
errSimona Balestrini; Ingrid E. Scheffer
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errSave
Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy
errEpilepsia
IF6.6
err2026-02-05
err0
errOAAI
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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errSave
Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive
errJournal of Clinical Investigation
IF13.6
err2026-01-16
err0
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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errSave
Childhood motor speech disorders: who to prioritise for genetic testing
errEuropean Journal of Human Genetics
IF4.6
err2026-01-13
err0
errOAAI
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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errSave
Bilateral frontal periventricular nodular heterotopia: a distinctive cortical malformation
errEuropean Journal of Paediatric Neurology
IF2.3
err2025-12-01
err0
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.
errShare
errSave
Time to Change the Drug Trial Paradigm for Dravet Syndrome: Designing Trials for the Disease Rather than Squeezing the Disease into the Trial
errANNALS OF NEUROLOGY
IF7.7
err2025-12-01
err0
PREAI
errScheffer, Ingrid E.; Perucca, Piero; Karoly, Philippa J.
errShare
errSave
Identification of an episignature for the MEF2C-associated syndrome
errEuropean Journal of Human Genetics
IF4.6
err2025-11-25
err0
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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errSave
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
errEpilepsia
IF6.6
err2025-11-01
err0
errOAAI
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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errSave
Bexicaserin for the treatment of seizures in developmental and epileptic encephalopathies: A phase 1b/2a trial (PACIFIC)
errEpilepsia
IF6.6
err2025-10-24
err0
errOAAI
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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errSave
Pharmacological and dietary treatments for developmental stuttering: a systematic review
errNeuroscience & Biobehavioral Reviews
IF0
err2025-10-15
err0
PREAI
errSarah Horton; Elana J. Forbes; Ingrid Scheffer; Sheena Reilly; Daisy A. Shepherd; Angela T. Morgan
errShare
errSave
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder
errNature Communications
IF15.7
err2025-10-10
err0
errOAAI
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
errShare
errSave
Atenolol rescues premature mortality in genetic mouse models of sudden unexpected death in epilepsy
errEpilepsia
IF6.6
err2025-09-24
err0
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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errSave
Is there really evidence for neurodegeneration in Dravet syndrome? Commentary on the publication by Selvarajah et al.
errEpilepsia
IF6.6
err2025-08-05
err0
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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errSave
SUDEP risk is influenced by longevity genomics: a polygenic risk score study
erreBioMedicine
IF10.8
err2025-07-28
err0
errOAAI
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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errSave
Serial correlation between saliva and blood beta-hydroxybutyrate levels in children commencing the ketogenic diet for epilepsy
errEPILEPSIA
IF6.6
err2025-05-24
err0
errOAAI
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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errSave
Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variants
errHUMAN MOLECULAR GENETICS
IF3.2
err2025-05-22
err0
errOAAI
errSikta, Neblina; Gooley, Samuel; Green, Timothy E.; Hoeper, Olivia; Witkowski, Tom; Bennett, Caitlin; Francis, David; Reid, Joshua; Mao, Kevin; Awad, Mohammed; Roberts-Thomson, Samuel; Bulluss, Kristian; Clark, Jonathan; Scheffer, Ingrid E.; Perucca, Piero; Bennett, Mark F.; Bahlo, Melanie; Berkovic, Samuel F.; Hildebrand, Michael S.
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errSave
Understanding speech and language in KIF1A-associated neurological disorder
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2025-05-16
err0
errOAAI
errMorison, Lottie D.; Vogel, Adam P.; Christodoulou, John; Gold, Wendy A.; Verden, Dylan; Chung, Wendy K.; Braden, Ruth; Bredebusch, Joanna; Kaur, Simranpreet; Scheffer, Ingrid E.; Morgan, Angela T.
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errSave

Research Directions

No research directions
Co-authors
Cooperation Journals
C
Christian Gieger
H-index: 175 · Papers: 942
J
Jay Shendure
H-index: 167 · Papers: 662
S
Stylianos E. Antonarakis
H-index: 146 · Papers: 918
W
William B. Dobyns
H-index: 127 · Papers: 600
C
Christopher A. Walsh
H-index: 122 · Papers: 576
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