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  • UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN

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UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN

Authors

  • Yonatan Perez The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel PubMed articlesGoogle scholar articles
  • Rotem Kadir The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel PubMed articlesGoogle scholar articles
  • Michael Volodarsky The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel PubMed articlesGoogle scholar articles
  • Iris Noyman Pediatric Neurology Unit, Division of Pediatrics, Faculty of Health Sciences, Soroka University Medical Center, Ben-Gurion University of the Negev, Beer Sheva, Israel PubMed articlesGoogle scholar articles
  • Hagit Flusser Zussman Child Development Center, Faculty of Health Sciences, Soroka University Medical Center, Ben-Gurion University of the Negev, Beer Sheva, Israel PubMed articlesGoogle scholar articles
  • Zamir Shorer Pediatric Neurology Unit, Division of Pediatrics, Faculty of Health Sciences, Soroka University Medical Center, Ben-Gurion University of the Negev, Beer Sheva, Israel PubMed articlesGoogle scholar articles
  • Libe Gradstein Department of Ophthalmology, Faculty of Health Sciences, Soroka Medical Center and Clalit Health Services, Ben-Gurion University of the Negev, Beer Sheva, Israel PubMed articlesGoogle scholar articles
  • Ramon Y Birnbaum Department of Life Sciences, Faculty of Natural Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel PubMed articlesGoogle scholar articles
  • Ohad S Birk The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel Genetics Institute, Soroka University Medical Center, Ben-Gurion University of the Negev, Beer Sheva, Israel PubMed articlesGoogle scholar articles
  1. Correspondence to Professor Ohad S Birk, Genetics Institute, Soroka Medical Center, Ben-Gurion University of the Negev, PO Box 151, Beer Sheva 84101, Israel; obirk{at}bgu.ac.il
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Citation

Perez Y, Kadir R, Volodarsky M, et al
UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN
Journal of Medical Genetics 2016;53:397-402.

Publication history

  • Received July 1, 2015
  • Revised October 13, 2015
  • Accepted October 17, 2015
  • First published November 6, 2015.
Online issue publication 
May 24, 2016

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