Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.

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Title: Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.
Authors: Fichtman B; Azrieli Faculty of Medicine, Bar-Ilan University, Safed 1311502, Israel., Harel T; Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel., Biran N; Azrieli Faculty of Medicine, Bar-Ilan University, Safed 1311502, Israel., Zagairy F; Azrieli Faculty of Medicine, Bar-Ilan University, Safed 1311502, Israel., Applegate CD; McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Salzberg Y; Azrieli Faculty of Medicine, Bar-Ilan University, Safed 1311502, Israel., Gilboa T; Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91240, Israel., Salah S; Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel., Shaag A; Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel., Simanovsky N; Department of Medical Imaging, Hadassah Medical Center, Jerusalem 91240, Israel., Ayoubieh H; McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA; Baylor-Hopkins Center for Mendelian Genomics, Jerusalem 91240, Israel, Jerusalem 91240, Israel., Sobreira N; McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA; Baylor-Hopkins Center for Mendelian Genomics, Jerusalem 91240, Israel, Jerusalem 91240, Israel., Punzi G; Laboratory of Biochemistry, Molecular and Computational Biology; Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70125 Bari, Italy., Pierri CL; Laboratory of Biochemistry, Molecular and Computational Biology; Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70125 Bari, Italy., Hamosh A; McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA; Baylor-Hopkins Center for Mendelian Genomics, Jerusalem 91240, Israel, Jerusalem 91240, Israel., Elpeleg O; Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel., Harel A; Azrieli Faculty of Medicine, Bar-Ilan University, Safed 1311502, Israel. Electronic address: amnon.harel@biu.ac.il., Edvardson S; Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91240, Israel; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.
Source: American journal of human genetics [Am J Hum Genet] 2019 Jul 03; Vol. 105 (1), pp. 48-64. Date of Electronic Publication: 2019 Jun 06.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1537-6605
DOI:10.1016/j.ajhg.2019.05.003