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Absent CNKSR2 causes seizures and intellectual,attention, and language deficits

Authors:	Andrea K Vaags PhD Sarah Bowdin BM MSc MRCPCH Mary‐Lou Smith PhD Brigitte Gilbert‐Dussardier MD Katja S Brocke‐Holmefjord MD Katia Sinopoli PhD CPsych Cindy Gilles MSc Tove B Haaland MD Catherine Vincent‐Delorme MD Emmanuelle Lagrue MD Radu Harbuz MD Susan Walker PhD Christian R Marshall PhD Gunnar Houge MD PhD Vera M Kalscheuer PhD Stephen W Scherer PhD Berge A Minassian MD

Institution:	1. Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada;2. Cytogenetics Laboratory, Alberta Children's Hospital, Calgary, Alberta, Canada;3. Department of Anatomical Pathology and Cytopathology, Calgary Laboratory Services, Calgary, Alberta, Canada;4. Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, Canada;5. Division of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada;6. Neurosciences and Mental Health Program, Hospital for Sick Children, Toronto, Ontario, Canada;7. Department of Psychology, University of Toronto, Toronto, Ontario, Canada;8. Genetic Service, Poitiers University Hospital Centre, University of Poitiers, Poitiers, France;9. Department of Pediatric Habilitation, Stavanger University Hospital, Stavanger, Norway;10. Division of Neurology, Hospital for Sick Children, Toronto, Ontario, Canada;11. Department of Psychology, Hospital for Sick Children, Toronto, Ontario, Canada;12. Pediatric Neurology Unit, Gatien de Clocheville Children's Hospital, Tours Regional University Hospital Centre, Tours, France;13. Guy Fontaine Clinical Genetics Service, Jeanne de Flandre Hospital, Lille, France;14. Children's Neuromuscular Consultation, Neuropediatric and Handicap Service, Gatien de Clocheville Children's Hospital, Tours, France;15. Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada;16. Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada;17. McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada;18. Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway;19. Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany;20. Division of Neurology, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada;21. Institute of Medical Sciences, University of Toronto, Toronto, Ontario, Canada

Abstract:	Synaptic function is central to brain function. Understanding the synapse is aided by studies of patients lacking individual synaptic proteins. Common neurological diseases are genetically complex. Their understanding is likewise simplified by studies of less common monogenic forms. We detail the disease caused by absence of the synaptic protein CNKSR2 in 8 patients ranging from 6 to 62 years old. The disease is characterized by intellectual disability, attention problems, and abrupt lifelong language loss following a brief early childhood epilepsy with continuous spike‐waves in sleep. This study describes the phenotype of CNKSR2 deficiency and its involvement in systems underlying common neurological disorders. Ann Neurol 2014;76:758–764

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