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Open Access
Peer-reviewed
Research Article
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations
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Xiaolin Zhu,
Roles Conceptualization, Data curation, Formal analysis, Investigation, Writing – original draft, Writing – review & editing
Affiliation Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, United States of America
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Raghavendra Padmanabhan,
Roles Data curation, Writing – review & editing
Affiliation Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, United States of America
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Brett Copeland,
Roles Software, Writing – review & editing
Affiliation Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, United States of America
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Joshua Bridgers,
Roles Data curation, Writing – review & editing
Affiliation Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, United States of America
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Zhong Ren,
Roles Data curation, Software, Writing – review & editing
Affiliation Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, United States of America
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Sitharthan Kamalakaran,
Roles Data curation, Software, Writing – review & editing
Affiliation Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, United States of America
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Ailbhe O'Driscoll-Collins,
Roles Data curation, Writing – original draft, Writing – review & editing
Affiliation Department of Medicine, Royal College of Surgeons in Ireland, St Stephen's Green, Dublin, Ireland
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Samuel F. Berkovic,
Roles Funding acquisition, Investigation, Resources, Writing – review & editing
Affiliation Epilepsy Research Centre, Department of Medicine, University of Melbourne at Austin Health, Heidelberg, Australia
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Ingrid E. Scheffer,
Roles Investigation, Resources, Writing – review & editing
Affiliations Epilepsy Research Centre, Department of Medicine, University of Melbourne at Austin Health, Heidelberg, Australia, Florey Institute for Neuroscience and Mental Health, University of Melbourne, Heidelberg, Australia, Departments of Paediatrics and Neurology, Royal Children's Hospital, University of Melbourne, Melbourne, Australia
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Annapurna Poduri,
Roles Funding acquisition, Investigation, Resources, Writing – review & editing
Affiliation Epilepsy Genetics Program and Department of Neurology, Harvard Medical School, Boston, MA, United States of America
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Davide Mei,
Roles Resources, Writing – review & editing
Affiliation Pediatric Neurology Unit and Laboratories, Meyer Children’s Hospital, University of Florence, Florence, Italy
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Renzo Guerrini,
Roles Funding acquisition, Resources, Writing – review & editing
Affiliations Pediatric Neurology Unit and Laboratories, Meyer Children’s Hospital, University of Florence, Florence, Italy, IRCCS Stella Maris Foundation, Pisa, Italy
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Daniel H. Lowenstein,
Roles Funding acquisition, Investigation, Resources
Affiliation Department of Neurology, University of California, San Francisco, San Francisco, California, United States of America
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Andrew S. Allen,
Roles Conceptualization, Formal analysis, Investigation, Supervision, Writing – review & editing, Writing – original draft
Affiliation Department of Biostatistics and Bioinformatics, Duke University, Durham, North Carolina, United States of America
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Erin L. Heinzen ,
Contributed equally to this work with: Erin L. Heinzen, David B. Goldstein
Roles Conceptualization, Formal analysis, Funding acquisition, Investigation, Project administration, Supervision, Writing – original draft, Writing – review & editing
Affiliation Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, United States of America
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David B. Goldstein
Contributed equally to this work with: Erin L. Heinzen, David B. Goldstein
Roles Conceptualization, Formal analysis, Funding acquisition, Project administration, Supervision, Writing – original draft, Writing – review & editing
* E-mail: dg2875@cumc.columbia.edu
Affiliations Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, United States of America, Department of Medicine, Royal College of Surgeons in Ireland, St Stephen's Green, Dublin, Ireland
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A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations
- Xiaolin Zhu,
- Raghavendra Padmanabhan,
- Brett Copeland,
- Joshua Bridgers,
- Zhong Ren,
- Sitharthan Kamalakaran,
- Ailbhe O'Driscoll-Collins,
- Samuel F. Berkovic,
- Ingrid E. Scheffer,
- Annapurna Poduri
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- Published: November 29, 2017
- https://doi.org/10.1371/journal.pgen.1007104