Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable-Reference-Cited by-同舟云学术

Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable

Published:2021-05-05 Issue:6 Volume:62 Page:1293-1305
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Lewis‐Smith David¹²^ORCID,Galer Peter D.³⁴⁵⁶^ORCID,Balagura Ganna⁷^ORCID,Kearney Hugh⁸⁹^ORCID,Ganesan Shiva³⁴⁵^ORCID,Cosico Mahgenn³⁴^ORCID,O'Brien Margaret³⁴,Vaidiswaran Priya³⁴^ORCID,Krause Roland¹⁰^ORCID,Ellis Colin A.⁴⁶^ORCID,Thomas Rhys H.¹²^ORCID,Robinson Peter N.¹¹¹²^ORCID,Helbig Ingo³⁴⁵⁶^ORCID

Affiliation:

1. Translational and Clinical Research Institute Newcastle University Newcastle‐upon‐Tyne UK

2. Department of Clinical Neurosciences Royal Victoria Infirmary Newcastle‐upon‐Tyne UK

3. Division of Neurology Children’s Hospital of Philadelphia Philadelphia PA USA

4. The Epilepsy NeuroGenetics Initiative (ENGIN) Children's Hospital of Philadelphia Philadelphia PA USA

5. Department of Biomedical and Health Informatics (DBHi) Children’s Hospital of Philadelphia Philadelphia PA USA

6. Department of Neurology University of Pennsylvania Philadelphia PA USA

7. Medical Genetics Unit IRCSS Giannina Gaslini Institute Genoa Italy

8. FutureNeuro the SFI Research Centre for Chronic and Rare Neurological Diseases Royal College of Surgeons in Ireland Dublin Ireland

9. Department of Neurology Beaumont Hospital Dublin Ireland

10. Luxembourg Centre for Systems Biomedicine Université du Luxembourg Esch‐sur‐Alzette Luxembourg

11. The Jackson Laboratory for Genomic Medicine Farmington CT USA

12. Institute for Systems Genomics University of Connecticut Farmington CT USA

Funder

Children's Hospital of Philadelphia

Perelman School of Medicine, University of Pennsylvania

Hartwell Foundation

Deutsche Forschungsgemeinschaft

Guarantors of Brain

European Commission

National Institute of Neurological Disorders and Stroke

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Science Foundation Ireland

National Center for Advancing Translational Sciences

European Regional Development Fund

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.16908

Reference50 articles.

1. The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria

2. Blinders, phenotype, and fashionable genetic analysis: A critical examination of the current state of epilepsy genetic studies

3. Big data in epilepsy: Clinical and research considerations. Report from the Epilepsy Big Data Task Force of the International League Against Epilepsy

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

5. Instruction manual for the ILAE 2017 operational classification of seizure types

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