New Results
Systematic re-annotation of 191 genes associated with early-onset epilepsy unmasks de novo variants linked to Dravet syndrome in novel SCN1A exons
Charles A. Steward, Jolien Roovers, Marie-Marthe Suner, Jose M. Gonzalez, Barbara Uszczynska-Ratajczak, Dmitri Pervouchine, Stephen Fitzgerald, Margarida Viola, Hannah Stamberger, Fadi F. Hamdan, Berten Ceulemans, Patricia Leroy, Caroline Nava, Anne Lepine, Electra Tapanari, Don Keiller, Stephen Abbs, Alba Sanchis-Juan, Detelina Grozeva, Anthony S. Rogers, James Wright, Jyoti Choudhary, Mark Diekhans, Roderic Guigó, Robert Petryszak, Berge A. Minassian, Gianpiero Cavalleri, Dimitrios Vitsios, Slavé Petrovski, Jennifer Harrow, Paul Flicek, F. Lucy Raymond, Nicholas J. Lench, Peter De Jonghe, Jonathan M. Mudge, Sarah Weckhuysen, Sanjay M. Sisodiya, Adam Frankish
doi: https://doi.org/10.1101/648576
Charles A. Steward
1Congenica Ltd, Wellcome Genome Campus, Hinxton, Cambridge CB10 1DR, UK
2Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Jolien Roovers
3Neurogenetics Group, Center for Molecular Neurology, University of Antwerp, Belgium
4Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium
Marie-Marthe Suner
2Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
5European Molecular Biology Laboratory, European Bioinformatics Institute, EMBL-EBI, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK
Jose M. Gonzalez
2Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
5European Molecular Biology Laboratory, European Bioinformatics Institute, EMBL-EBI, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK
Barbara Uszczynska-Ratajczak
6Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology, Dr. Aiguader 88, 08003 Barcelona, Spain
7Universitat Pompeu Fabra (UPF), Barcelona, Spain
8Centre of New Technologies, University of Warsaw, Warsaw, Poland
Dmitri Pervouchine
9Skolkovo Institute for Science and Technology 3 Nobel St., Skolkovo Innovation Centre, Moscow, Russia
Stephen Fitzgerald
2Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Margarida Viola
3Neurogenetics Group, Center for Molecular Neurology, University of Antwerp, Belgium
4Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium
Hannah Stamberger
3Neurogenetics Group, Center for Molecular Neurology, University of Antwerp, Belgium
4Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium
10Department of Neurology, University Hospital Antwerp, Antwerp, Belgium
Fadi F. Hamdan
11Molecular Diagnostic Laboratory and Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, H3T 1C5, Canada
Berten Ceulemans
12Department of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium
Patricia Leroy
13Department of Neuropediatrics, CHR Citadelle, CHU Sart-Tilman, Liège, Belgium
Caroline Nava
14Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France
15Sorbonne Universities, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France
Anne Lepine
16Pediatric Neurology Department, Timone Hospital, APHM, Marseille, France
Electra Tapanari
2Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
5European Molecular Biology Laboratory, European Bioinformatics Institute, EMBL-EBI, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK
Don Keiller
17Anglia Ruskin University, Cambridge, CB1 1PT, UK
Stephen Abbs
18Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, CB2 0QQ, UK
Alba Sanchis-Juan
19Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge CB2 0PT, UK
Detelina Grozeva
20Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, CB2 0XY, UK
Anthony S. Rogers
1Congenica Ltd, Wellcome Genome Campus, Hinxton, Cambridge CB10 1DR, UK
James Wright
21Functional Proteomics, Department of Cancer Biology, The Institute of Cancer Research, 237 Fulham Road, London, SW3 6JB, UK
Jyoti Choudhary
21Functional Proteomics, Department of Cancer Biology, The Institute of Cancer Research, 237 Fulham Road, London, SW3 6JB, UK
Mark Diekhans
22Center for Biomolecular Science and Engineering, University of California, Santa Cruz, CA, USA
Roderic Guigó
6Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology, Dr. Aiguader 88, 08003 Barcelona, Spain
7Universitat Pompeu Fabra (UPF), Barcelona, Spain
Robert Petryszak
5European Molecular Biology Laboratory, European Bioinformatics Institute, EMBL-EBI, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK
Berge A. Minassian
23The Hospital for Sick Children, Toronto, Canada
24Department of Pediatrics (Neurology), University of Texas Southwestern, Dallas, Texas, USA
Gianpiero Cavalleri
25The FutureNeuro Research Centre, Royal College of Surgeons in Ireland, Dublin, Ireland
Dimitrios Vitsios
26Centre for Genomics Research, Discovery Sciences, R&D BioPharmaceuticals, AstraZeneca, Cambridge CB2 0AA, UK
Slavé Petrovski
26Centre for Genomics Research, Discovery Sciences, R&D BioPharmaceuticals, AstraZeneca, Cambridge CB2 0AA, UK
Jennifer Harrow
2Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
5European Molecular Biology Laboratory, European Bioinformatics Institute, EMBL-EBI, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK
27Illumina Inc, Great Chesterford, Essex CB10 1XL, UK
Paul Flicek
5European Molecular Biology Laboratory, European Bioinformatics Institute, EMBL-EBI, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK
F. Lucy Raymond
20Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, CB2 0XY, UK
Nicholas J. Lench
1Congenica Ltd, Wellcome Genome Campus, Hinxton, Cambridge CB10 1DR, UK
28North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
Peter De Jonghe
3Neurogenetics Group, Center for Molecular Neurology, University of Antwerp, Belgium
4Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium
10Department of Neurology, University Hospital Antwerp, Antwerp, Belgium
Jonathan M. Mudge
2Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
5European Molecular Biology Laboratory, European Bioinformatics Institute, EMBL-EBI, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK
Sarah Weckhuysen
3Neurogenetics Group, Center for Molecular Neurology, University of Antwerp, Belgium
4Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium
10Department of Neurology, University Hospital Antwerp, Antwerp, Belgium
Sanjay M. Sisodiya
29Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK
30Chalfont Centre for Epilepsy, Bucks, SL9 0RJ, UK
Adam Frankish
2Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
5European Molecular Biology Laboratory, European Bioinformatics Institute, EMBL-EBI, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK
Article usage
Posted May 30, 2019.
Systematic re-annotation of 191 genes associated with early-onset epilepsy unmasks de novo variants linked to Dravet syndrome in novel SCN1A exons
Charles A. Steward, Jolien Roovers, Marie-Marthe Suner, Jose M. Gonzalez, Barbara Uszczynska-Ratajczak, Dmitri Pervouchine, Stephen Fitzgerald, Margarida Viola, Hannah Stamberger, Fadi F. Hamdan, Berten Ceulemans, Patricia Leroy, Caroline Nava, Anne Lepine, Electra Tapanari, Don Keiller, Stephen Abbs, Alba Sanchis-Juan, Detelina Grozeva, Anthony S. Rogers, James Wright, Jyoti Choudhary, Mark Diekhans, Roderic Guigó, Robert Petryszak, Berge A. Minassian, Gianpiero Cavalleri, Dimitrios Vitsios, Slavé Petrovski, Jennifer Harrow, Paul Flicek, F. Lucy Raymond, Nicholas J. Lench, Peter De Jonghe, Jonathan M. Mudge, Sarah Weckhuysen, Sanjay M. Sisodiya, Adam Frankish
bioRxiv 648576; doi: https://doi.org/10.1101/648576
Systematic re-annotation of 191 genes associated with early-onset epilepsy unmasks de novo variants linked to Dravet syndrome in novel SCN1A exons
Charles A. Steward, Jolien Roovers, Marie-Marthe Suner, Jose M. Gonzalez, Barbara Uszczynska-Ratajczak, Dmitri Pervouchine, Stephen Fitzgerald, Margarida Viola, Hannah Stamberger, Fadi F. Hamdan, Berten Ceulemans, Patricia Leroy, Caroline Nava, Anne Lepine, Electra Tapanari, Don Keiller, Stephen Abbs, Alba Sanchis-Juan, Detelina Grozeva, Anthony S. Rogers, James Wright, Jyoti Choudhary, Mark Diekhans, Roderic Guigó, Robert Petryszak, Berge A. Minassian, Gianpiero Cavalleri, Dimitrios Vitsios, Slavé Petrovski, Jennifer Harrow, Paul Flicek, F. Lucy Raymond, Nicholas J. Lench, Peter De Jonghe, Jonathan M. Mudge, Sarah Weckhuysen, Sanjay M. Sisodiya, Adam Frankish
bioRxiv 648576; doi: https://doi.org/10.1101/648576
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