Nonsense-Mediated mRNA Decay and Loss-of-Function of the Protein Underlie the X-Linked Epilepsy Associated with the W356× Mutation in Synapsin I

• Maila Giannandrea ,

  Contributed equally to this work with: Maila Giannandrea, Fabrizia C. Guarnieri

  Current address: Dulbecco Telethon Institute at Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy

  Affiliation Division of Neuroscience, San Raffaele Scientific Institute and Vita-Salute University, Milan, Italy

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• Fabrizia C. Guarnieri ,

  Contributed equally to this work with: Maila Giannandrea, Fabrizia C. Guarnieri

  Affiliation Division of Neuroscience, San Raffaele Scientific Institute and Vita-Salute University, Milan, Italy

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• Niels H. Gehring,

  Affiliation Institute for Genetics, University of Cologne, Cologne, Germany

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• Elena Monzani,

  Affiliation Division of Neuroscience, San Raffaele Scientific Institute and Vita-Salute University, Milan, Italy

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• Fabio Benfenati,

  Affiliations Department of Neuroscience and Brain Technologies, The Italian Institute of Technology, Genoa, Italy, Department of Experimental Medicine, University of Genoa, Genoa, Italy

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• Andreas E. Kulozik,

  Affiliation Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg Medical Center and Molecular Medicine Partnership Unit, EMBL and University of Heidelberg, Heidelberg, Germany

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• Flavia Valtorta

  * E-mail: valtorta.flavia@hsr.it

  Affiliation Division of Neuroscience, San Raffaele Scientific Institute and Vita-Salute University, Milan, Italy

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