Ingrid E. Scheffer
- ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology
2017/03/08 by Ingrid E. Scheffer, Samuel F. Berkovic, Samuel Berkovic +18 · 91 citations
Medicine · Neuroscience · #Epilepsy research and treatment #Pharmacological Effects and Toxicity Studies #Neuroscience and Neuropharmacology Research
- ILAE Official Report: A practical clinical definition of epilepsy
2014/04/01 by Robert S. Fisher, Carlos Alberto Acevedo, Carlos Acevedo +18 · 77 citations
Medicine · Biochemistry, Genetics and Molecular Biology · #Epilepsy research and treatment #Pharmacological Effects and Toxicity Studies #Metabolism and Genetic Disorders
- Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology
2017/03/08 by Robert S. Fisher, J. Helen Cross, Jacqueline A. French +10 · 56 citations
Medicine · Neuroscience · #Epilepsy research and treatment #Neuroscience and Neuropharmacology Research #Pharmacological Effects and Toxicity Studies
- A definition and classification of status epilepticus – Report of the ILAE Task Force on Classification of Status Epilepticus
2015/09/04 by Eugen Trinka, Hannah R. Cock, Hannah Cock +7 · 52 citations
Medicine · Neuroscience · #Epilepsy research and treatment #Neuroscience and Neuropharmacology Research #Pharmacological Effects and Toxicity Studies
- ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions
2022/05/03 by Sameer M. Zuberi, Elaine Wirrell, Elissa Yozawitz +19 · 62 citations
Medicine · Biochemistry, Genetics and Molecular Biology · #Epilepsy research and treatment #Neonatal and fetal brain pathology #Metabolism and Genetic Disorders
- The genetics of Dravet syndrome
2011/04/01 by Carla Marini, Ingrid E. Scheffer, Rima Nabbout +4 · 27 citations
Medicine · Biochemistry, Genetics and Molecular Biology · #Epilepsy research and treatment #Ion Transport and Channel Regulation #Pharmacological Effects and Toxicity Studies
- Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group
2018/04/25 by Eric H. Kossoff, Beth Zupec‐Kania, Stéphane Auvin +29 · 1 voice · 2 citations
Medicine · Biochemistry, Genetics and Molecular Biology · #Diet and metabolism studies #Metabolism and Genetic Disorders #Glycogen Storage Diseases and Myoclonus
- Not all SCN1A epileptic encephalopathies are Dravet syndrome
2017/08/09 by Lynette G. Sadleir, Emily I. Mountier, Emily Mountier +354 · 3 citations
Medicine · Biochemistry, Genetics and Molecular Biology · #Epilepsy research and treatment #Genomics and Rare Diseases #Genetics and Neurodevelopmental Disorders
- Long‐term follow‐up of febrile infection–related epilepsy syndrome
2011/12/22 by Katherine B. Howell, Kamornwan Katanyuwong, Mark T. Mackay +6 · 21 citations
Medicine · Immunology and Microbiology · #Epilepsy research and treatment #Bacterial Infections and Vaccines #Infectious Encephalopathies and Encephalitis
- Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children
2022/12/29 by Gemma Poke, James Stanley, Ingrid E. Scheffer +1 · 3 citations
Medicine · #Epilepsy research and treatment #Pharmacological Effects and Toxicity Studies #Neonatal and fetal brain pathology
- Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
2022/04/01 by Sarah Stephenson, Sarah E.M. Stephenson, Gregory Costain +127 · 20 citations
Biochemistry, Genetics and Molecular Biology · #Genomic variations and chromosomal abnormalities #Genetics and Neurodevelopmental Disorders #Ubiquitin and proteasome pathways
- SCN1A pathogenic variants do not have a distinctive blood‐derived DNA methylation signature
2025/02/11 by Christy W. LaFlamme, Karim Karimi, Cassandra Rastin +12 · 1 voice · 1 citation
Biochemistry, Genetics and Molecular Biology · #Genomics and Rare Diseases #Epigenetics and DNA Methylation #Genomic variations and chromosomal abnormalities
- Long‐term safety and effectiveness of fenfluramine in children and adults with Dravet syndrome
2025/03/12 by Ingrid E. Scheffer, Rima Nabbout, Lieven Lagae +13 · 1 voice · 1 citation
Medicine · #Epilepsy research and treatment #Neonatal and fetal brain pathology #Pharmacological Effects and Toxicity Studies