The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria-Reference-Cited by-同舟云学术

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

Published:2018-10-11 Issue:11 Volume:39 Page:1476-1484
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Helbig Ingo¹²^ORCID,Riggs Erin Rooney³^ORCID,Barry Carrie‐Anne³,Klein Karl Martin⁴⁵,Dyment David⁶,Thaxton Courtney⁷,Sadikovic Bekim⁸,Sands Tristan T.⁹,Wagnon Jacy L.¹⁰^ORCID,Liaquat Khalida¹¹,Cilio Maria Roberta¹²,Mirzaa Ghayda¹³¹⁴,Park Kristen¹⁵,Axeen Erika¹⁶,Butler Elizabeth¹⁷,Bardakjian Tanya M.¹⁸,Striano Pasquale¹⁹,Poduri Annapurna²⁰,Siegert Rebecca K.²¹,Grant Andrew R.²¹,Helbig Katherine L.¹^ORCID,Mefford Heather C.²²

Affiliation:

1. Division of NeurologyChildren's Hospital of Philadelphia Philadelphia Pennsylvania USA

2. Department of NeuropediatricsChristian‐Albrechts‐University of Kiel Kiel Germany

3. Autism & Developmental Medicine InstituteGeisinger Health System Lewisburg Pennsylvania USA

4. Department of NeurologyEpilepsy Center Frankfurt Rhine‐MainGoethe UniversityFrankfurt am Main Frankfurt Germany

5. Department of NeurologyEpilepsy Center HessenPhilipps University, Marburg Marburg Germany

6. Children's Hospital of Eastern Ontario Research InstituteUniversity of Ottawa Ottawa Canada

7. Department of GeneticsUniversity of North Carolina Chapel Hill North Carolina USA

8. Department of Pathology and Laboratory MedicineWestern University Molecular Genetic LaboratoryLondon Health Sciences London Ontario Canada

9. Division of Child NeurologyColumbia University Medical Center New York New York USA

10. Department of Human GeneticsUniversity of Michigan Ann Arbor Michigan USA

11. Quest DiagnosticsAthena Diagnostics Marlborough Massachusetts USA

12. Departments of Pediatrics and NeurologyUniversity of California San Francisco California USA

13. Center for Integrative Brain ResearchSeattle Children's Research Institute Seattle Washington USA

14. Department of PediatricsUniversity of Washington Seattle Washington USA

15. Department of Pediatrics and NeurologyUniversity of Colorado School of Medicine Aurora Colorado USA

16. Department of NeurologyUniversity of Virginia Charlottesville Virginia USA

17. GeneDx Gaithersburg Maryland USA

18. Department of NeurologyUniversity of Pennsylvania Philadelphia Pennsylvania USA

19. Pediatric Neurology and Muscular Diseases UnitDINOGMI‐Department of NeurosciencesRehabilitationOphthalmology, Genetics, Maternal and Child Health“G. Gaslini” InstituteUniversity of Genoa Genova Italy

20. Epilepsy Genetics ProgramDepartment of NeurologyBoston Children's Hospital Boston Massachusetts USA

21. Laboratory for Molecular MedicinePartners Healthcare Personalized Medicine Cambridge Massachusetts USA

22. Division of Genetic MedicineUniversity of Washington Seattle Washington USA

Funder

National Institutes of Health

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23632

Reference30 articles.

1. Epilepsies in twins: Genetics of the major epilepsy syndromes

2. De novo mutations in epileptic encephalopathies

3. A roadmap for precision medicine in the epilepsies

4. De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

5. Broad Phenotypic Heterogeneity due to a Novel SCN1A Mutation in a Family With Genetic Epilepsy With Febrile Seizures Plus

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