Ingrid E. Scheffer

Research interests

Publications

• 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 · https://doi.org/10.1111/epi.17241

• ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions

  Epilepsia · 2022 · https://doi.org/10.1111/epi.17239

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

  Brain · 2022 · https://doi.org/10.1093/brain/awac210

• The phenotype of SCN8A developmental and epileptic encephalopathy

  Neurology · 2018 · https://doi.org/10.1212/wnl.0000000000006199

• Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

  The American Journal of Human Genetics · 2018 · https://doi.org/10.1016/j.ajhg.2018.10.023

• DNM1 encephalopathy

  Neurology · 2017 · https://doi.org/10.1212/wnl.0000000000004152

• Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

  The Lancet Neurology · 2017 · https://doi.org/10.1016/s1474-4422(16)30359-3

• ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

  Epilepsia · 2017 · https://doi.org/10.1111/epi.13709

• GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

  Journal of Medical Genetics · 2017 · https://doi.org/10.1136/jmedgenet-2016-104509

• Instruction manual for the ILAE 2017 operational classification of seizure types

  Epilepsia · 2017 · https://doi.org/10.1111/epi.13671

• Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology

  Epilepsia · 2017 · https://doi.org/10.1111/epi.13670

• Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome

  New England Journal of Medicine · 2017 · https://doi.org/10.1056/nejmoa1611618

• Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

  The Lancet Neurology · 2017 · https://doi.org/10.1016/s1474-4422(16)30359-3

• Mutations in KCNT 1 cause a spectrum of focal epilepsies

  Epilepsia · 2015 · https://doi.org/10.1111/epi.13071

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

  The American Journal of Human Genetics · 2015 · https://doi.org/10.1016/j.ajhg.2015.02.016

• A definition and classification of status epilepticus – Report of the ILAE Task Force on Classification of Status Epilepticus

  Epilepsia · 2015 · https://doi.org/10.1111/epi.13121

• The phenotypic spectrum of SCN8A encephalopathy

  Neurology · 2015 · https://doi.org/10.1212/wnl.0000000000001211

• Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency

  Human Molecular Genetics · 2015 · https://doi.org/10.1093/hmg/ddv245

• CHD2variants are a risk factor for photosensitivity in epilepsy

  Brain · 2015 · https://doi.org/10.1093/brain/awv052

• ILAE Official Report: A practical clinical definition of epilepsy

  Epilepsia · 2014 · https://doi.org/10.1111/epi.12550

• Somatic Mutations in Cerebral Cortical Malformations

  New England Journal of Medicine · 2014 · https://doi.org/10.1056/nejmoa1314432

• A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

  Nature Genetics · 2014 · https://doi.org/10.1038/ng.3144

• GABRA1 and STXBP1 : Novel genetic causes of Dravet syndrome

  Neurology · 2014 · https://doi.org/10.1212/wnl.0000000000000291

• Mutations in DEPDC5 cause familial focal epilepsy with variable foci

  Nature Genetics · 2013 · https://doi.org/10.1038/ng.2599

• Extending the KCNQ2 encephalopathy spectrum

  Neurology · 2013 · https://doi.org/10.1212/01.wnl.0000435296.72400.a1

• Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

  Nature Genetics · 2013 · https://doi.org/10.1038/ng.2646

• Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

  Human Molecular Genetics · 2012 · https://doi.org/10.1093/hmg/dds373

• Rare copy number variants are an important cause of epileptic encephalopathies

  Annals of Neurology · 2011 · https://doi.org/10.1002/ana.22645

• Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients

  Brain · 2010 · https://doi.org/10.1093/brain/awq078

• Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005–2009

  Epilepsia · 2010 · https://doi.org/10.1111/j.1528-1167.2010.02522.x

• The spectrum of SCN1A-related infantile epileptic encephalopathies

  Brain · 2007 · https://doi.org/10.1093/brain/awm002

• Sodium-channel defects in benign familial neonatal-infantile seizures

  The Lancet · 2002 · https://doi.org/10.1016/s0140-6736(02)09968-3

• Autosomal dominant nocturnal frontal lobe epilepsy

  Brain · 1995 · https://doi.org/10.1093/brain/118.1.61

Current projects

No projects listed.