Scheffer, Ingrid E.

Heart rate variability in epilepsy: A potential biomarker of sudden unexpected death in epilepsy risk

Myers, K. A., Bello‐Espinosa, L. E., Symonds, J. D., Zuberi, S. M., Clegg, R., Sadleir, L. G., Buchhalter, J., & Scheffer, I. E. (2018) · Epilepsia

Epilepsy research and treatmentHeart Rate Variability and Autonomic Control

Cited by 151

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

Burgess, R., Wang, S., McTague, A., Boysen, K. E., Yang, X., Zeng, Q., Myers, K. A., Rochtus, A., Trivisano, M., Gill, D., et al. (2019) · Annals of Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 141

Parental Mosaicism in “De Novo” Epileptic Encephalopathies

Myers, C. T., Hollingsworth, G., Muir, A. M., Schneider, A. L., Thuesmunn, Z., Knupp, A., King, C., Lacroix, A., Mehaffey, M. G., Berkovic, S. F., et al. (2018) · New England Journal of Medicine

Epilepsy research and treatmentGenomic variations and chromosomal abnormalities

Cited by 139

Genetic epilepsy with febrile seizures plus: Refining the spectrum

Zhang, Y.-H., Burgess, R., Malone, J. P., Glubb, G. C., Helbig, K. L., Vadlamudi, L., Kivity, S., Afawi, Z., Bleasel, A., Grattan-Smith, P., et al. (2017) · Neurology

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 139

Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy

Mullen, S. A., Marini, C., Suls, A., Mei, D., Della Giustina, E., Buti, D., Arsov, T., Damiano, J., Lawrence, K., De Jonghe, P., et al. (2011) · Archives of Neurology

Epilepsy research and treatmentGlycogen Storage Diseases and Myoclonus

Cited by 138

Keeping people with epilepsy safe during the COVID-19 pandemic

French, J. A., Brodie, M. J., Caraballo, R., Devinsky, O., Ding, D., Jehi, L., Jette, N., Kanner, A., Modi, A. C., Newton, C. R., et al. (2020) · Neurology

Epilepsy research and treatmentCOVID-19 and healthcare impacts

Cited by 138

Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut Syndrome: A Randomized Clinical Trial

Knupp, K. G., Scheffer, I. E., Ceulemans, B., Sullivan, J. E., Nickels, K. C., Lagae, L., Guerrini, R., Zuberi, S. M., Nabbout, R., Riney, K., et al. (2022) · JAMA Neurology

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 137

Mirror neuron system involvement in empathy: A critical look at the evidence

Baird, A. D., Scheffer, I. E., & Wilson, S. J. (2011) · Social Neuroscience

Action Observation and SynchronizationSocial Robot Interaction and HRI

Cited by 137

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype

Sadleir, L. G., Mountier, E. I., Gill, D., Davis, S., Joshi, C., DeVile, C., Kurian, M. A., Study, F. T. D., Mandelstam, S., Wirrell, E., et al. (2017) · Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 131

TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features

Balestrini, S., Milh, M., Castiglioni, C., Lüthy, K., Finelli, M. J., Verstreken, P., Cardon, A., Stražišar, B. G., Holder, J. L., Lesca, G., et al. (2016) · Neurology

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 124

Defining Dravet syndrome: An essential pre‐requisite for precision medicine trials

Li, W., Schneider, A. L., & Scheffer, I. E. (2021) · Epilepsia

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 123

Progressive Gait Deterioration in Adolescents With Dravet Syndrome

Rodda, J. M., Scheffer, I. E., McMahon, J. M., Berkovic, S. F., & Graham, H. K. (2012) · Archives of Neurology

Cerebral Palsy and Movement DisordersEpilepsy research and treatment

Cited by 121

A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy

Howell, K. B., Eggers, S., Dalziel, K., Riseley, J., Mandelstam, S., Myers, C. T., McMahon, J. M., Schneider, A., Carvill, G. L., Mefford, H. C., et al. (2018) · Epilepsia

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 114

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

Petrovski, S., Küry, S., Myers, C. T., Anyane-Yeboa, K., Cogné, B., Bialer, M., Xia, F., Hemati, P., Riviello, J., Mehaffey, M., et al. (2016) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 114

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

Thomas, R. H., Zhang, L. M., Carvill, G. L., Archer, J. S., Heavin, S. B., Mandelstam, S. A., Craiu, D., Berkovic, S. F., Gill, D. S., Mefford, H. C., et al. (2015) · Neurology

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 100

Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies

Donnan, A. M., Schneider, A. L., Russ-Hall, S., Churilov, L., & Scheffer, I. E. (2023) · Neurology

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 97

Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children

Poke, G., Stanley, J., Scheffer, I. E., & Sadleir, L. G. (2023) · Neurology

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 96

Sleep problems in Dravet syndrome: a modifiable comorbidity

Licheni, S. H., Mcmahon, J. M., Schneider, A. L., Davey, M. J., & Scheffer, I. E. (2018) · Developmental Medicine & Child Neurology

Sleep and related disordersEpilepsy research and treatment

Cited by 85

A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel

Xu, R., Thomas, E. A., Jenkins, M., Gazina, E. V., Chiu, C., Heron, S. E., Mulley, J. C., Scheffer, I. E., Berkovic, S. F., & Petrou, S. (2007) · Molecular and Cellular Neuroscience

Ion channel regulation and functionEpilepsy research and treatment

Cited by 84

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study

D'Gama, A. M., Mulhern, S., Sheidley, B. R., Boodhoo, F., Buts, S., Chandler, N. J., Cobb, J., Curtis, M., Higginbotham, E. J., Holland, J., et al. (2023) · The Lancet Neurology

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 80

Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain

Ye, Z., Chatterton, Z., Pflueger, J., Damiano, J. A., McQuillan, L., Simon Harvey, A., Malone, S., Do, H., Maixner, W., Schneider, A., et al. (2021) · Brain Communications

Cancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities

Cited by 77

Epileptic spasms are a feature of DEPDC5 mTORopathy

Carvill, G. L., Crompton, D. E., Regan, B. M., McMahon, J. M., Saykally, J., Zemel, M., Schneider, A. L., Dibbens, L., Howell, K. B., Mandelstam, S., et al. (2015) · Neurology Genetics

Epilepsy research and treatmentTuberous Sclerosis Complex Research

Cited by 76

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

Howell, K. B., Freeman, J. L., Mackay, M. T., Fahey, M. C., Archer, J., Berkovic, S. F., Chan, E., Dabscheck, G., Eggers, S., Hayman, M., et al. (2021) · Epilepsia

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 72

The effect of the ketogenic diet on the developing skeleton

Simm, P. J., Bicknell-Royle, J., Lawrie, J., Nation, J., Draffin, K., Stewart, K. G., Cameron, F. J., Scheffer, I. E., & Mackay, M. T. (2017) · Epilepsy Research

Diet and metabolism studiesBone health and osteoporosis research

Cited by 67