title: H1N1 triggered recurrent acute necrotizing encephalopathy in a family with a T653I mutation in the RANBP2 gene.
abstract: A 28-month-old infant presented with fever, vomiting and encephalopathy. Magnetic resonance imaging findings and family history confirmed a diagnosis of recurrent familial acute necrotizing encephalopathy (ANE1). We believe that this is the first description implicating the H1N1 viral strain as a trigger and the second report of a T653I mutation in the RANBP2 gene described in relation to ANE1.
authors.affiliation: From the *Department of Paediatric Neurology; †Paediatric Infectious Disease and Immunology, John Radcliffe Hospital; ‡Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Trust; §Department of Clinical Neurosciences, University of Oxford; ¶Department of Neuropathology; ‖Department of Neuroradiology, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxfordshire, United Kingdom; and **Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
authors.forename: Geetha
authors.initials: G
authors.lastname: Anand
authors.forename: Ravindran
authors.initials: R
authors.lastname: Visagan
authors.forename: Saleel
authors.initials: S
authors.lastname: Chandratre
authors.forename: Shelley
authors.initials: S
authors.lastname: Segal
authors.forename: Andrea H
authors.initials: AH
authors.lastname: Nemeth
authors.forename: Waney
authors.initials: W
authors.lastname: Squier
authors.forename: Fintan
authors.initials: F
authors.lastname: Sheerin
authors.forename: Derek
authors.initials: D
authors.lastname: Neilson
authors.forename: Sandeep
authors.initials: S
authors.lastname: Jayawant
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D053118:Influenza A Virus, H1N1 Subtype; D007251:Influenza, Human / Q000150:complications*; D004684:Leukoencephalitis, Acute Hemorrhagic / Q000175:diagnosis* / Q000209:etiology*; D008279:Magnetic Resonance Imaging; D018832:Molecular Chaperones / Q000235:genetics*; D009154:Mutation; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*
chemical_list: D018832:Molecular Chaperones; D028861:Nuclear Pore Complex Proteins; C094493:ran-binding protein 2