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Open Access
Peer-reviewed
Research Article
A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking
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Swati Khare,
Current address: Department of Neurology, Barrow Neurological Institute, St. Joseph’s Hospital and Medical Center, Phoenix, AZ
Affiliations Department of Neurology, University of Florida, Gainesville, FL, United States of America, McKnight Brain Institute, University of Florida, Gainesville, FL, United States of America, Department of Biomedical Engineering, University of Florida, Gainesville, FL, United States of America
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Jerelyn A. Nick,
Affiliations Department of Neurology, University of Florida, Gainesville, FL, United States of America, McKnight Brain Institute, University of Florida, Gainesville, FL, United States of America
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Yalan Zhang,
Affiliation Department of Pharmacology, Yale University, New Haven, CT, United States of America
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Kira Galeano,
Affiliations Department of Neurology, University of Florida, Gainesville, FL, United States of America, McKnight Brain Institute, University of Florida, Gainesville, FL, United States of America
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Brittany Butler,
Affiliations McKnight Brain Institute, University of Florida, Gainesville, FL, United States of America, Department of Neuroscience, University of Florida, Gainesville, FL, United States of America
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Habibeh Khoshbouei,
Affiliations McKnight Brain Institute, University of Florida, Gainesville, FL, United States of America, Department of Neuroscience, University of Florida, Gainesville, FL, United States of America
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Sruti Rayaprolu,
Affiliation Department of Neuroscience, University of Florida, Gainesville, FL, United States of America
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Tyisha Hathorn,
Affiliation Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL, United States of America
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Laura P. W. Ranum,
Affiliation Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL, United States of America
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Lisa Smithson,
Affiliations McKnight Brain Institute, University of Florida, Gainesville, FL, United States of America, Department of Neuroscience, University of Florida, Gainesville, FL, United States of America
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Todd E. Golde,
Affiliations McKnight Brain Institute, University of Florida, Gainesville, FL, United States of America, Department of Neuroscience, University of Florida, Gainesville, FL, United States of America
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Martin Paucar,
Affiliations Department of Neurology, Karolinska University Hospital, Stockholm, Sweden, Department of Clinical Neuroscience, Karolinska Institute, Stockholm, Sweden
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Richard Morse,
Affiliation Department of Neurology, Dartmouth-Hitchcock Medical Center, Lebanon, NH, United States of America
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Michael Raff,
Affiliation Genomics Institute, Multicare Health System, Tacoma, WA, United States of America
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Julie Simon,
Affiliation Genomics Institute, Multicare Health System, Tacoma, WA, United States of America
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Magnus Nordenskjöld,
Affiliations Department of Genetics, Karolinska University Hospital, Stockholm, Sweden, Department of Molecular Medicine and Surgery, Karolinska Institute, Center for Molecular Medicine, Stockholm, Sweden
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Karin Wirdefeldt,
Affiliations Department of Clinical Neuroscience, Karolinska Institute, Stockholm, Sweden, Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden
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Diego E. Rincon-Limas,
Affiliations Department of Neurology, University of Florida, Gainesville, FL, United States of America, McKnight Brain Institute, University of Florida, Gainesville, FL, United States of America
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Jada Lewis,
Affiliations McKnight Brain Institute, University of Florida, Gainesville, FL, United States of America, Department of Neuroscience, University of Florida, Gainesville, FL, United States of America
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Leonard K. Kaczmarek,
Affiliation Department of Pharmacology, Yale University, New Haven, CT, United States of America
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Pedro Fernandez-Funez,
Affiliations Department of Neurology, University of Florida, Gainesville, FL, United States of America, McKnight Brain Institute, University of Florida, Gainesville, FL, United States of America
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Harry S. Nick,
Affiliations McKnight Brain Institute, University of Florida, Gainesville, FL, United States of America, Department of Neuroscience, University of Florida, Gainesville, FL, United States of America
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Michael F. Waters
* E-mail: Michael.Waters@DignityHealth.org
Current address: Department of Neurology, Barrow Neurological Institute, St. Joseph’s Hospital and Medical Center, Phoenix, AZ
Affiliations Department of Neurology, University of Florida, Gainesville, FL, United States of America, McKnight Brain Institute, University of Florida, Gainesville, FL, United States of America, Department of Biomedical Engineering, University of Florida, Gainesville, FL, United States of America, Department of Neuroscience, University of Florida, Gainesville, FL, United States of America
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A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking
- Swati Khare,
- Jerelyn A. Nick,
- Yalan Zhang,
- Kira Galeano,
- Brittany Butler,
- Habibeh Khoshbouei,
- Sruti Rayaprolu,
- Tyisha Hathorn,
- Laura P. W. Ranum,
- Lisa Smithson
- Published: May 3, 2017
- https://doi.org/10.1371/journal.pone.0173565