Scheffer, Ingrid E.

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

Wirrell, E. C., Nabbout, R., Scheffer, I. E., Alsaadi, T., Bogacz, A., French, J. A., Hirsch, E., Jain, S., Kaneko, S., Riney, K., et al. (2022) · Epilepsia

Epilepsy research and treatmentDiet and metabolism studies

Cited by 296

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

Myers, C. T., McMahon, J. M., Schneider, A. L., Petrovski, S., Allen, A. S., Carvill, G. L., Zemel, M., Saykally, J. E., LaCroix, A. J., Heinzen, E. L., et al. (2016) · The American Journal of Human Genetics

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 287

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

Riney, K., Bogacz, A., Somerville, E., Hirsch, E., Nabbout, R., Scheffer, I. E., Zuberi, S. M., Alsaadi, T., Jain, S., French, J., et al. (2022) · Epilepsia

Epilepsy research and treatmentTuberous Sclerosis Complex Research

Cited by 287

The phenotypic spectrum of SCN8A encephalopathy

Larsen, J., Carvill, G. L., Gardella, E., Kluger, G., Schmiedel, G., Barisic, N., Depienne, C., Brilstra, E., Mang, Y., Nielsen, J. E. K., et al. (2015) · Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 285

SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures

Howell, K. B., McMahon, J. M., Carvill, G. L., Tambunan, D., Mackay, M. T., Rodriguez-Casero, V., Webster, R., Clark, D., Freeman, J. L., Calvert, S., et al. (2015) · Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 255

International consensus on diagnosis and management of Dravet syndrome

Wirrell, E. C., Hood, V., Knupp, K. G., Meskis, M. A., Nabbout, R., Scheffer, I. E., Wilmshurst, J., & Sullivan, J. (2022) · Epilepsia

Epilepsy research and treatmentDiet and metabolism studies

Cited by 249

Rare copy number variants are an important cause of epileptic encephalopathies

Mefford, H. C., Yendle, S. C., Hsu, C., Cook, J., Geraghty, E., McMahon, J. M., Eeg‐Olofsson, O., Sadleir, L. G., Gill, D., Ben‐Zeev, B., et al. (2011) · Annals of Neurology

Genomic variations and chromosomal abnormalitiesEpilepsy research and treatment

Cited by 247

Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy

Ricos, M. G., Hodgson, B. L., Pippucci, T., Saidin, A., Ong, Y. S., Heron, S. E., Licchetta, L., Bisulli, F., Bayly, M. A., Hughes, J., et al. (2016) · Annals of Neurology

Epilepsy research and treatmentTuberous Sclerosis Complex Research

Cited by 246

SCN1A‐related phenotypes: Epilepsy and beyond

Scheffer, I. E., & Nabbout, R. (2019) · Epilepsia

Epilepsy research and treatmentIon channel regulation and function

Cited by 245

Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology

Catarino, C. B., Liu, J. Y. W., Liagkouras, I., Gibbons, V. S., Labrum, R. W., Ellis, R., Woodward, C., Davis, M. B., Smith, S. J., Cross, J. H., et al. (2011) · Brain

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 227

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

Carvill, G. L., McMahon, J. M., Schneider, A., Zemel, M., Myers, C. T., Saykally, J., Nguyen, J., Robbiano, A., Zara, F., Specchio, N., et al. (2015) · The American Journal of Human Genetics

Epilepsy research and treatmentNeuroscience and Neuropharmacology Research

Cited by 227

Distinguishing Sleep Disorders From Seizures: Diagnosing Bumps in the Night

Derry, C. P., Davey, M., Johns, M., Kron, K., Glencross, D., Marini, C., Scheffer, I. E., & Berkovic, S. F. (2006) · Archives of Neurology

Epilepsy research and treatmentSleep and related disorders

Cited by 223

Channelopathies as a genetic cause of epilepsy

Mulley, J. C., Scheffer, I. E., Petrou, S., & Berkovic, S. F. (2003) · Current Opinion in Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 214

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

Vlaskamp, D. R. M., Shaw, B. J., Burgess, R., Mei, D., Montomoli, M., Xie, H., Myers, C. T., Bennett, M. F., XiangWei, W., Williams, D., et al. (2019) · Neurology

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 206

Phenotypic Characterization of an α4 Neuronal Nicotinic Acetylcholine Receptor Subunit Knock-Out Mouse

Ross, S. A., Wong, J. Y. F., Clifford, J. J., Kinsella, A., Massalas, J. S., Horne, M. K., Scheffer, I. E., Kola, I., Waddington, J. L., Berkovic, S. F., et al. (2000) · The Journal of Neuroscience

Nicotinic Acetylcholine Receptors StudyNeuroscience and Neuropharmacology Research

Cited by 204

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

van Bon, B. W. M., Coe, B. P., Bernier, R., Green, C., Gerdts, J., Witherspoon, K., Kleefstra, T., Willemsen, M. H., Kumar, R., Bosco, P., et al. (2016) · Molecular Psychiatry

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 204

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability

Mullen, S. A., Carvill, G. L., Bellows, S., Bayly, M. A., Berkovic, S. F., Dibbens, L. M., Scheffer, I. E., & Mefford, H. C. (2013) · Neurology

Genomic variations and chromosomal abnormalitiesEpilepsy research and treatment

Cited by 188

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

Stödberg, T., McTague, A., Ruiz, A. J., Hirata, H., Zhen, J., Long, P., Farabella, I., Meyer, E., Kawahara, A., Vassallo, G., et al. (2015) · Nature Communications

Epilepsy research and treatmentIon channel regulation and function

Cited by 184

Deciphering the concepts behind “Epileptic encephalopathy” and “Developmental and epileptic encephalopathy”

Scheffer, I. E., & Liao, J. (2020) · European Journal of Paediatric Neurology

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 180

Genes4Epilepsy: An epilepsy gene resource

Oliver, K. L., Scheffer, I. E., Bennett, M. F., Grinton, B. E., Bahlo, M., & Berkovic, S. F. (2023) · Epilepsia

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 172

Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum

McTague, A., Appleton, R., Avula, S., Cross, J. H., King, M. D., Jacques, T. S., Bhate, S., Cronin, A., Curran, A., Desurkar, A., et al. (2013) · Brain

Epilepsy research and treatmentFetal and Pediatric Neurological Disorders

Cited by 170

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

Brunklaus, A., Brünger, T., Feng, T., Fons, C., Lehikoinen, A., Panagiotakaki, E., Vintan, M.-A., Symonds, J., Andrew, J., Arzimanoglou, A., et al. (2022) · Brain

Epilepsy research and treatmentIon channel regulation and function

Cited by 167

Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial

Knight, E. M. P., Amin, S., Bahi-Buisson, N., Benke, T. A., Cross, J. H., Demarest, S. T., Olson, H. E., Specchio, N., Fleming, T. R., Aimetti, A. A., et al. (2022) · The Lancet Neurology

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 160

Developmental and epileptic encephalopathies

Scheffer, I. E., Zuberi, S., Mefford, H. C., Guerrini, R., & McTague, A. (2024) · Nature Reviews Disease Primers

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 158