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Journal of Neurogenetics Volume 35, 2021 - Issue 2
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Original Research Articles

Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy

Elizabeth A. Burkea NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USACorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-0801-666XView further author information
ORCID Icon,
Morgan Sturgeonb Department of Pediatrics, University of Iowa, Iowa City, IA, USAView further author information
,
Diane B. Zastrowc Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USAView further author information
,
Liliana Fernandezc Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USAView further author information
,
Cameron Prybolc Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USAView further author information
,
Shruti Marwahac Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USAView further author information
,
Edward P. Frothinghamd Mid-Valley Children’s Clinic, Albany, OR, USAView further author information
,
Patricia A. Warde Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USAView further author information
,
Christine M. Enge Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USAView further author information
,
Laure Fresardf Department of Pathology, Stanford University School of Medicine, Stanford, CA, USAView further author information
,
Stephen B. Montgomeryf Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA;g Department of Genetics, Stanford University School of Medicine, Stanford, CA, USAView further author information
,
Gregory M. Ennsh Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USAView further author information
,
Paul G. Fisherc Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA;h Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA;i Department of Neurology, Stanford University School of Medicine, Stanford, CA, USAView further author information
,
Lynne A. Wolfea NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USAView further author information
,
Brian Hardingj Departments of Pathology and Lab Medicine (Neuropathology), Children’s Hospital of Philadelphia and the Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USAView further author information
,
Blake Carringtonk Zebrafish Core, Translational and Functional Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USAView further author information
,
Kevin Bishopk Zebrafish Core, Translational and Functional Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USAView further author information
,
Raman Soodk Zebrafish Core, Translational and Functional Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USAView further author information
,
Yan Huanga NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USAView further author information
,
Abdel Elkahlounl Microarray Core, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USAView further author information
,
Camilo Toroa NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USAView further author information
,
Alexander G. Bassukb Department of Pediatrics, University of Iowa, Iowa City, IA, USAView further author information
,
Matthew T. Wheelerc Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USAView further author information
,
Thomas C. Markelloa NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USAView further author information
,
William A. Gahla NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA;m Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USAView further author information
&
May Christine V. Malicdana NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USAView further author information
 show all
Pages 74-83 | Received 14 Oct 2020, Accepted 15 Feb 2021, Published online: 10 May 2021

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