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Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain‐of‐function variants R201C and R201H
Authors:Sarah B. Mulkey  Bruria Ben‐Zeev  Joost Nicolai  John L. Carroll  Sabine Grønborg  Yong‐hui Jiang  Nishtha Joshi  Megan Kelly  David. A. Koolen  Mohamad A. Mikati  Kristen Park  Phillip L. Pearl  Ingrid E. Scheffer  Rebecca C. Spillmann  Maurizio Taglialatela  Silvia Vieker  Maria Roberta Cilio
Affiliation:1. Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas, U.S.A;2. Department of Pediatrics, Sackler School of Medicine, Tel Hashomer, Israel;3. Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands;4. Center for Rare Diseases, Department of Clinical Genetics, University Hospital Copenhagen, Copenhagen, Denmark;5. Departments of Pediatrics and Neurobiology, Duke University Medical Center, Durham, North Carolina, U.S.A;6. Departments of Neurology, Neuroscience, and Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, U.S.A;7. Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands;8. Department of Pediatrics, University of Colorado, Aurora, Colorado, U.S.A;9. Departments of Pediatrics and Neurology, Boston Children's Hospital, Boston, Massachusetts, U.S.A;10. Royal Children's Hospital, Melbourne, Victoria, Australia;11. Department of Neuroscience, University of Naples Federico II, Naples, Italy;12. Department of Medicine and Health Sciences, University of Molise, Campobasso, Italy;13. Protestant Hospital Bielefeld, Bielefeld, Germany;14. Departments of Neurology and Pediatrics, University of California San Francisco, San Francisco, California, U.S.A
Abstract:
Keywords:KCNQ2  Neonatal seizures  Myoclonus  Epileptic encephalopathy  Infantile spasms
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