Scheffer, Ingrid E.

Lamotrigine can be beneficial in patients with Dravet syndrome

Dalic, L., Mullen, S. A., Roulet Perez, E., & Scheffer, I. (2015) · Developmental Medicine & Child Neurology

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 64

Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition

Martins Custodio, H., Clayton, L. M., Bellampalli, R., Pagni, S., Silvennoinen, K., Caswell, R., Genomics England Research Consortium, Ambrose, J. C., Arumugam, P., Bevers, R., et al. (2023) · Brain

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 62

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

Stamberger, H., Hammer, T. B., Gardella, E., Vlaskamp, D. R. M., Bertelsen, B., Mandelstam, S., de Lange, I., Zhang, J., Myers, C. T., Fenger, C., et al. (2021) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 57

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

Knupp, K. G., Scheffer, I. E., Ceulemans, B., Sullivan, J., Nickels, K. C., Lagae, L., Guerrini, R., Zuberi, S. M., Nabbout, R., Riney, K., et al. (2023) · Epilepsia

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 55

Natural History Studies and Clinical Trial Readiness for Genetic Developmental and Epileptic Encephalopathies

Palmer, E. E., Howell, K., & Scheffer, I. E. (2021) · Neurotherapeutics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 53

Fenfluramine treatment is associated with improvement in everyday executive function in preschool-aged children (<5 years) with Dravet syndrome: A critical period for early neurodevelopment

Bishop, K. I., Isquith, P. K., Gioia, G. A., Knupp, K. G., Scheffer, I. E., Nabbout, R., Specchio, N., Sullivan, J., Auvin, S., Helen Cross, J., et al. (2023) · Epilepsy & Behavior

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 43

The role of common genetic variation in presumed monogenic epilepsies

Campbell, C., Leu, C., Feng, Y.-C. A., Wolking, S., Moreau, C., Ellis, C., Ganesan, S., Martins, H., Oliver, K., Boothman, I., et al. (2022) · eBioMedicine

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 42

Schizophrenia is a later‐onset feature ofPCDH 19 Girls Clustering Epilepsy

Vlaskamp, D. R. M., Bassett, A. S., Sullivan, J. E., Robblee, J., Sadleir, L. G., Scheffer, I. E., & Andrade, D. M. (2019) · Epilepsia

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 39

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

Akula, S. K., Chen, A. Y., Neil, J. E., Shao, D. D., Mo, A., Hylton, N. K., DiTroia, S., Ganesh, V. S., Smith, R. S., O’Kane, K., et al. (2023) · JAMA Neurology

Fetal and Pediatric Neurological DisordersGenomics and Rare Diseases

Cited by 37

Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes

Ye, Z., Bennett, M. F., Neal, A., Laing, J. A., Hunn, M. K., Wittayacharoenpong, T., Todaro, M., Patel, S. K., Bahlo, M., Kwan, P., et al. (2022) · Neurology

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 35

Fatal Cerebral Edema With Status Epilepticus in Children With Dravet Syndrome: Report of 5 Cases

Myers, K. A., McMahon, J. M., Mandelstam, S. A., Mackay, M. T., Kalnins, R. M., Leventer, R. J., & Scheffer, I. E. (2017) · Pediatrics

Epilepsy research and treatmentInfectious Encephalopathies and Encephalitis

Cited by 34

Dysarthria and broader motor speech deficits in Dravet syndrome

Turner, S. J., Brown, A., Arpone, M., Anderson, V., Morgan, A. T., & Scheffer, I. E. (2017) · Neurology

Epilepsy research and treatmentLanguage Development and Disorders

Cited by 33

Movement Disorders in Patients With Genetic Developmental and Epileptic Encephalopathies

van der Veen, S., Tse, G. T. W., Ferretti, A., Garone, G., Post, B., Specchio, N., Fung, V. S. C., Trivisano, M., & Scheffer, I. E. (2023) · Neurology

Epilepsy research and treatmentDeep Brain Stimulation and Movement Disorders

Cited by 32

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

LaFlamme, C. W., Rastin, C., Sengupta, S., Pennington, H. E., Russ-Hall, S. J., Schneider, A. L., Bonkowski, E. S., Almanza Fuerte, E. P., Allan, T. J., Zalusky, M. P.-G., et al. (2024) · Nature Communications

Epilepsy research and treatmentEpigenetics and DNA Methylation

Cited by 31

Head stereotypies in STXBP 1 encephalopathy

Kim, Y. O., Korff, C. M., Villaluz, M. M. G., Suls, A., Weckhuysen, S., De Jonghe, P., & Scheffer, I. E. (2013) · Developmental Medicine & Child Neurology

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 25

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

Viswanathan, S., Oliver, K. L., Regan, B. M., Schneider, A. L., Myers, C. T., Mehaffey, M. G., LaCroix, A. J., Antony, J., Webster, R., Cardamone, M., et al. (2024) · Annals of Neurology

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 23

WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk

Oliver, K. L., Trivisano, M., Mandelstam, S. A., De Dominicis, A., Francis, D. I., Green, T. E., Muir, A. M., Chowdhary, A., Hertzberg, C., Goldhahn, K., et al. (2023) · Epilepsia

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 23

Does long‐term phenytoin have a place in Dravet syndrome?

Zographos, G. A., Russ‐Hall, S. J., & Scheffer, I. E. (2022) · Annals of Clinical and Translational Neurology

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 17

Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability

Francis, D. I., Stark, Z., Scheffer, I. E., Tan, T. Y., Murali, K., Gallacher, L., Amor, D. J., Goel, H., Downie, L., Stutterd, C. A., et al. (2023) · European Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 16

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

Sleyp, Y., Valenzuela, I., Accogli, A., Ballon, K., Ben-Zeev, B., Berkovic, S. F., Broly, M., Callaerts, P., Caylor, R. C., Charles, P., et al. (2022) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 10

Why should a neurologist worry about climate change?

Sisodiya, S. M., Scheffer, I. E., Lowenstein, D. H., & Free, S. L. (2019) · The Lancet Neurology

Climate Change and Health ImpactsClimate Change and Environmental Impact

Cited by 6