Ingrid E Scheffer

Also affiliated with Florey Institute of Neuroscience and Mental Health, Austin Health

MedicineBiochemistry, Genetics and Molecular BiologyNeuroscience

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 1%percentile

7.3Author DataRank

Indexed papers

4in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 4 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions

Epilepsia(2022)10.1111/epi.17236

Top 4%

5.6DataRank

Top 4%449 citations

Jacqueline A. French, Ingrid E Scheffer, Alicia Bogacz, Taoufik Alsaadi, Michael R. Sperling +17 more

Papers

Driven by 63 papers — median percentile 71. Top paper: “ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions”.

ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions

Epilepsia(2022)10.1111/epi.17236

Top 4%

5.6DataRank

Top 4%449 citations

Jacqueline A. French, Ingrid E Scheffer, Alicia Bogacz, Taoufik Alsaadi, Michael R. Sperling +17 more

Focal epilepsy in SCN1A‐mutation carrying patients: is there a role for epilepsy surgery?

Developmental Medicine & Child Neurology(2020)10.1111/dmcn.14588

N/A

1.3DataRank · unranked

31 citations

Sophia Varadkar, Thomas Bast, Edouard Hirsch, Karl Strobl, A Simon Harvey +4 more

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Nature Communications(2023)10.1038/s41467-023-39539-6

N/A

1.2DataRank · unranked

56 citations

David Lewis‐Smith, Ryan L. Collins, Lisa‐Marie Niestroj, Shridhar Parthasarathy, Julie Xian +94 more

MRI and pathology correlations in the medulla in sudden unexpected death in epilepsy (SUDEP): a postmortem study

Neuropathology and Applied Neurobiology(2020)10.1111/nan.12638

Top 20%

1.0DataRank

Top 20%28 citations

Mohamed Tachrount, Arun Somani, Ingrid E Scheffer, Tarek Yousry, Xavier Golay +3 more

A randomized, double‐blind trial of triheptanoin for drug‐resistant epilepsy in glucose transporter 1 deficiency syndrome

Epilepsia(2022)10.1111/epi.17263

N/A

0.944DataRank · unranked

27 citations

Stéphane Auvin, Abigail Collins, Rita Horváth, Ingrid E Scheffer, Michal Tzadok +11 more

Infantile‐onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype

Epilepsia Open(2021)10.1002/epi4.12553

N/A

0.680DataRank · unranked

12 citations

Michael S. Hildebrand, Melanie Bahlo, Chontelle King, Matthew Coleman, Timothy E. Green +7 more

Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals

Journal of Medical Genetics(2024)10.1136/jmg-2023-109702

Top 38%

0.503DataRank

Top 38%16 citations

Milou G. P. Kennis, Dmitrijs Rots, Arianne Bouman, Joost Kummeling, Elizabeth E. Palmer +12 more

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive

Journal of Clinical Investigation(2025)10.1172/jci189830

Top 70%

0.165DataRank

Top 70%2 citations

Khaing Phyu Aung, Vivian W. Y. Liao, Nathan L. Absalom, Han Chow Chua, Xuetao Gan +46 more

Damaging de novo missense variants inEEF1A2lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy

Human Mutation(2020)10.1002/humu.24015

N/A

0DataRank · unranked

40 citations

Katherine L. Helbig, Candace T. Myers, Marcello Scala, Robert Huether, Sara A. Lewis +40 more

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12290

N/A

0DataRank · unranked

38 citations

Erik A. Eklund, Sergey A. Shiryaev, Yin Yao Dong, Mary‐Alice Abbott, Carla Asteggiano +48 more

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

Neuron(2020)10.1016/j.neuron.2020.01.027

N/A

0DataRank · unranked

35 citations

Alison M. Muir, Won‐Jing Wang, Yi-Ning Kang, Kun-Chuan Yang, Nian-Hsin Chao +26 more

Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy

Epilepsia(2020)10.1111/epi.16475

N/A

0DataRank · unranked

24 citations

Guillem de Valles‐Ibáñez, Chontelle King, Matthew Coleman, Stuart Mossman, Sarah Paterson +8 more

Genome-wide association study of febrile seizures identifies seven new loci implicating fever response and neuronal excitability genes

medRxiv(2020)10.1101/2020.11.18.20233916

N/A

0DataRank · unranked

3 citations

João Fadista, Jonas Bybjerg‐Grauholm, Vivek Appadurai, Michael S. Hildebrand, Thomas Folkmann Hansen +34 more

Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.03.013

N/A

0DataRank · unranked

86 citations

Karen Oliver, Eon Joo Park, Jillian M. Cameron, Kariona A. Grabińska, Mikko Muona +34 more

The severe epilepsy syndromes of infancy: A population‐based study

Epilepsia(2021)10.1111/epi.16810

N/A

0DataRank · unranked

67 citations

Jeremy L. Freeman, Mark T. Mackay, Michael Fahey, John S. Archer, Samuel F. Berkovic +24 more

Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes

Brain(2021)10.1093/brain/awab260

N/A

0DataRank · unranked

64 citations

João Fadista, Jonas Bybjerg‐Grauholm, Vivek Appadurai, Michael S. Hildebrand, Thomas Folkmann Hansen +34 more

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.04.009

N/A

0DataRank · unranked

60 citations

Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley, Andrew S. Allen, Yen‐Chen Anne Feng +95 more

Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy

Brain(2021)10.1093/brain/awab145

N/A

0DataRank · unranked

48 citations

Chaseley E. McKenzie, Ming S. Soh, Ian C. Forster, Paulo Pinares-Garcia, Alicia Sedó +10 more

Postictal Psychosis in Epilepsy: A Clinicogenetic Study

Annals of Neurology(2021)10.1002/ana.26174

N/A

0DataRank · unranked

32 citations

Helena Martins Custodio, Costin Leu, Luigi Agrò, Baihan Wang, Stella Calafato +15 more

Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions

Human Molecular Genetics(2021)10.1093/hmg/ddab366

N/A

0DataRank · unranked

20 citations

Joshua E. Motelow, Mark F. Bennett, Zimeng Ye, Caitlin A. Bennett, Nicole G. Griffin +17 more

Atypical development of Broca’s area in a large family with inherited stuttering

Brain(2021)10.1093/brain/awab364

N/A

0DataRank · unranked

20 citations

Thomas Scerri, Susan Block, Samantha J. Turner, Sheena Reilly, Elaina Kefalianos +8 more

Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy

Annals of Neurology(2021)10.1002/ana.26147

N/A

0DataRank · unranked

18 citations

Kyle R. Christensen, Emily Bryant, Amy Schneider, Jennifer Rakotomamonjy, Alison M. Muir +32 more

A family study implicates GBE1 in the etiology of autism spectrum disorder

Human Mutation(2021)10.1002/humu.24289

N/A

0DataRank · unranked

3 citations

Natasha J. Brown, Peter F. Hickey, Peter Diakumis, Haloom Rafehi, Kiymet Bozaoglu +17 more

Pathogenic MAST3 variants in the STK domain are associated with epilepsy

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.03.09.434675

N/A

0DataRank · unranked

2 citations

Kyle R. Christensen, Emily Bryant, Amy Schneider, Jennifer Rakotomamonjy, Alison M. Muir +25 more

Medullary tyrosine hydroxylase catecholaminergic neuronal populations in sudden unexpected death in epilepsy

Advanced Biomedicine(2021)10.54730/abm.2021.030505

N/A

0DataRank · unranked

0 citations

Sanjay M. Sisodiya, Ingrid E Scheffer, Alyma Somani, Matthew J. Ellis, Ian Tan +2 more

International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions

Epilepsia(2022)10.1111/epi.17241

N/A

0DataRank · unranked

902 citations

Elaine C Wirrell, Ingrid E Scheffer, Rima Nabbout, Kate Riney, Pauline Samia +14 more

Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions

Epilepsia(2022)10.1111/epi.17237

N/A

0DataRank · unranked

276 citations

Rima Nabbout, Ingrid E Scheffer, Taoufik Alsaadi, Alicia Bogacz, Jacqueline A. French +17 more

International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and Definitions

Epilepsia(2022)10.1111/epi.17240

N/A

0DataRank · unranked

262 citations

Alicia Bogacz, Ernest Somerville, Édouard Hirsch, Rima Nabbout, Ingrid E Scheffer +15 more

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications

Brain(2022)10.1093/brain/awac210

N/A

0DataRank · unranked

158 citations

Tobias Brünger, Tony Feng, Carmen Fons, Anni Lehikoinen, Eleni Panagiotakaki +30 more

Development and Validation of a Prediction Model for Early Diagnosis of SCN1A -Related Epilepsies

Neurology(2022)10.1212/wnl.0000000000200028

N/A

0DataRank · unranked

73 citations

Eduardo Pérez‐Palma, Ismael Ghanty, Xinge Ji, Eva H. Brilstra, Berten Ceulemans +17 more

Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood

Neurology(2022)10.1212/wnl.0000000000200715

N/A

0DataRank · unranked

58 citations

David Crosiers, Ganna Balagura, Claudia Bonardi, Anna Basu, Gaetano Cantalupo +36 more

Fenfluramine provides clinically meaningful reduction in frequency of drop seizures in patients with Lennox–Gastaut syndrome: Interim analysis of an open‐label extension study

Epilepsia(2022)10.1111/epi.17431

N/A

0DataRank · unranked

50 citations

Ingrid E Scheffer, Berten Ceulemans, Joseph Sullivan, Katherine Nickels, Lieven Lagae +14 more

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.03.002

N/A

0DataRank · unranked

42 citations

Gregory Costain, Laura E.R. Blok, Michael Silk, Thanh Nguyen, Xiaomin Dong +95 more

Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery

EBioMedicine(2022)10.1016/j.ebiom.2022.104079

N/A

0DataRank · unranked

41 citations

Colin A. Ellis, Ingrid E Scheffer, Shiva Ganesan, Costin Leu, Lynette G. Sadleir +12 more

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

Neurology(2022)10.1212/wnl.0000000000201492

N/A

0DataRank · unranked

24 citations

Lynette G. Sadleir, Matthew Zemel, Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Allyn McConkie‐Rosell +50 more

Defective lipid signalling caused by mutations inPIK3C2Bunderlies focal epilepsy

Brain(2022)10.1093/brain/awac082

N/A

0DataRank · unranked

23 citations

Gaga Kochlamazashvili, Sara Baldassari, Albert Ian Mackintosh, Laura Licchetta, Emanuela Iovino +27 more

Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation

Journal of Medical Genetics(2022)10.1136/jmedgenet-2021-108177

N/A

0DataRank · unranked

21 citations

Bobby G. Ng, Amy White, Kim K. Nickander, Coleman Turgeon, Kristen Liedtke +31 more

Response to sequential treatment with prednisolone and vigabatrin in infantile spasms

Journal of Paediatrics and Child Health(2022)10.1111/jpc.16181

N/A

0DataRank · unranked

10 citations

Sally Cheng, Penny Snell, Michael Fahey, Ingrid E Scheffer, A. Simon Harvey +2 more

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder

Genetics in Medicine(2022)10.1016/j.gim.2022.08.020

N/A

0DataRank · unranked

10 citations

Irene Valenzuela, Andrea Accogli, Katleen Ballon, Bruria Ben‐Zeev, Samuel F. Berkovic +39 more

PIGNencephalopathy: Characterizing the epileptology

Epilepsia(2022)10.1111/epi.17173

N/A

0DataRank · unranked

8 citations

Guillem de Valles‐Ibáñez, Manuela Pendziwiat, Alexej Knaus, Kerstin Alt, Elisa Biamino +64 more

Somatic Ras/Raf/MAPK Variants Enriched in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy

medRxiv(2022)10.1101/2022.12.23.22283854

N/A

0DataRank · unranked

5 citations

Yilan Wang, Yasmine Chahine, E. Zeynep Erson‐Omay, Stephanie M. Robert, Emre Kiziltug +36 more

Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy

medRxiv(2022)10.1101/2022.04.26.22274147

N/A

0DataRank · unranked

0 citations

Lynette G. Sadleir, Matthew Zemel, Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Allyn McConkie‐Rosell +49 more

Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the ENVISION natural history study

Epilepsia(2023)10.1111/epi.17850

N/A

0DataRank · unranked

24 citations

Ingrid E Scheffer, Joseph Sullivan, Andreas Brunklaus, Susana Boronat, James W. Wheless +24 more

Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40

Brain(2023)10.1093/brain/awad314

N/A

0DataRank · unranked

13 citations

Thomas Scerri, Adam P. Vogel, Christopher A. Reid, Mara Quach, Victoria E. Jackson +28 more

BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

European Journal of Human Genetics(2023)10.1038/s41431-023-01410-z

N/A

0DataRank · unranked

10 citations

Stéphanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, Emanuele Agolini +85 more

Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy

medRxiv(2023)10.1101/2023.03.27.23287689

N/A

0DataRank · unranked

3 citations

Sydney L. Michener, Hongling Pan, Jessica M. Pfliger, Jill A. Rosenfeld, Vanesa Lerma +40 more

Long-read sequencing and profiling of RNA-binding proteins reveals the pathogenic mechanism of aberrant splicing of an SCN1A poison exon in epilepsy

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.05.04.538282

N/A

0DataRank · unranked

2 citations

Patricia N. Schneider, Jung Hwa Hong, Eleanor Goes, Masha D Bandouil, Carina G Biar +9 more

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature

medRxiv(2023)10.1101/2023.10.11.23296741

N/A

0DataRank · unranked

1 citations

Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie Russ-Hall, Amy Schneider +48 more

Investigating the effect of polygenic background on epilepsy phenotype in ‘monogenic’ families

EBioMedicine(2024)10.1016/j.ebiom.2024.105404

N/A

0DataRank · unranked

30 citations

Ingrid E Scheffer, Colin A. Ellis, Bronwyn E. Grinton, Zaid Afawi, Dina Amrom +43 more

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

Nature Communications(2024)10.1038/s41467-024-50159-6

N/A

0DataRank · unranked

24 citations

Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie Russ-Hall, Amy Schneider +50 more

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2023.12.004

N/A

0DataRank · unranked

14 citations

Sydney L. Michener, Hongling Pan, Hiuling Chan, Jessica M. Pfliger, Jill A. Rosenfeld +95 more

Inflation of polygenic risk scores caused by sample overlap and relatedness: Examples of a major risk of bias

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.07.014

N/A

0DataRank · unranked

13 citations

Karen Oliver, Rebekah V. Harris, Ruth Ottman, Ingrid E Scheffer, Heather C Mefford +4 more

Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs

Proceedings of the National Academy of Sciences(2025)10.1073/pnas.2509622122

N/A

0DataRank · unranked

13 citations

Maya Talukdar, Edward Stronge, Rosita B. Ramirez, Yingxi Yang, August Yue Huang +20 more

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

Annals of Neurology(2025)10.1002/ana.27272

N/A

0DataRank · unranked

8 citations

María Novelli, Robert Coukos, Neha Prakash, Walaa A. Kamel, Marta Amengual‐Gual +75 more

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

Epilepsia(2025)10.1111/epi.70015

N/A

0DataRank · unranked

1 citations

M. Scott Perry, Ingrid E Scheffer, James W. Wheless, Susana Boronat, Andreas Brunklaus +24 more

Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike–Wave Activation in Sleep (D/EE‐SWAS)

Annals of Neurology(2024)10.1002/ana.27041

N/A

0DataRank · unranked

18 citations

Karen Oliver, Brigid M. Regan, Amy Schneider, Candace T. Myers, Michele G. Mehaffey +22 more

Keeping people with epilepsy safe during the COVID-19 pandemic

Neurology(2020)10.1212/wnl.0000000000009632

N/A

0DataRank · unranked

141 citations

Martin J. Brodie, Roberto Caraballo, Orrin Devinsky, Ding Ding, Lara Jehi +14 more

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group

Epilepsia Open(2020)10.1002/epi4.12414

N/A

0DataRank · unranked

276 citations

Cigdem I. Akman, Marisa Armeno, Stéphane Auvin, Mackenzie C. Cervenka, J. Helen Cross +19 more

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Nature Communications(2020)10.1038/s41467-020-18723-y

N/A

0DataRank · unranked

217 citations

Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe +95 more

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects

Brain(2020)10.1093/brain/awaa171

N/A

0DataRank · unranked

81 citations

Eduardo Pérez‐Palma, Daniel P. Howrigan, Yadi Zhou, Feixiong Cheng, Elmo Saarentaus +86 more

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Genetics in Medicine(2020)10.1038/s41436-020-00988-9

N/A

0DataRank · unranked

56 citations

Trine Bjørg Hammer, Elena Gardella, Danique R.M. Vlaskamp, Birgitte Bertelsen, Simone Mandelstam +80 more

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.09.005

N/A

0DataRank · unranked

54 citations

Phillip C. Aoto, Erik M.F. Machal, Ana Rivera‐Barahona, Patricia Soto‐Bielicka, Daniela Bertinetti +37 more

Medullary tyrosine hydroxylase catecholaminergic neuronal populations in sudden unexpected death in epilepsy

Brain Pathology(2020)10.1111/bpa.12891

N/A

0DataRank · unranked

10 citations

Ian Tan, Matthew J. Ellis, Alyma Somani, Ingrid E Scheffer, Sanjay M. Sisodiya +2 more

Ingrid E Scheffer

Indexed papers

Top data-sharing exemplar

Papers