title: Novel neurofibromatosis type 2 mutation presenting with status epilepticus.
abstract: Neurofibromatosis type 2 (NF2) is a dominantly inherited syndrome caused by mutations of the tumour-suppressor NF2, which encodes the merlin protein. Mutations are associated with a predisposition to development of benign tumours in the central nervous system. Even though cerebral cortical lesions are frequently associated with seizures, epilepsy is rarely described in NF2. Here, we describe an adult case of NF2 in which the onset of symptoms was characterised by status epilepticus. In this patient, we identified the novel c.428_430delCTTdel mutation in NF2, involving the amino-terminal FERM domain, which is fundamental for the correct tumour suppressor function of the protein. Bioinformatic analyses revealed an important structural perturbation of the FERM domain, with a predicted impairment of the anti-tumour activity.
authors.affiliation: Department of Neurology, San Gerardo Hospital and Laboratory of Neurobiology, Department of Surgery and Interdisciplinary Medicine, University of Milano-Bicocca, Monza.
authors.forename: Jacopo C
authors.initials: JC
authors.lastname: DiFrancesco
authors.affiliation: Department of Clinical Physiopathology, Medical Genetics Unit, University of Florence, Florence.
authors.forename: Roberta
authors.initials: R
authors.lastname: Sestini
authors.affiliation: Department of Biosciences, University of Milano, Milano.
authors.forename: Federica
authors.initials: F
authors.lastname: Cossu
authors.affiliation: Department of Biosciences, University of Milano, Milano.
authors.forename: Martino
authors.initials: M
authors.lastname: Bolognesi
authors.affiliation: Medical Genetics Lab, San Gerardo Hospital, Monza.
authors.forename: Elena
authors.initials: E
authors.lastname: Sala
authors.affiliation: Obstetrics and Gynecological Clinic, S. Gerardo Hospital, Monza, Italy.
authors.forename: Silvana
authors.initials: S
authors.lastname: Mariani
authors.affiliation: Department of Neurology, San Gerardo Hospital and Laboratory of Neurobiology, Department of Surgery and Interdisciplinary Medicine, University of Milano-Bicocca, Monza.
authors.forename: Enrico
authors.initials: E
authors.lastname: Saracchi
authors.affiliation: Department of Clinical Physiopathology, Medical Genetics Unit, University of Florence, Florence.
authors.forename: Laura
authors.initials: L
authors.lastname: Papi
authors.affiliation: Department of Neurology, San Gerardo Hospital and Laboratory of Neurobiology, Department of Surgery and Interdisciplinary Medicine, University of Milano-Bicocca, Monza.
authors.forename: Carlo
authors.initials: C
authors.lastname: Ferrarese
mesh_terms: D001921:Brain / Q000473:pathology*; D004569:Electroencephalography / Q000379:methods; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D016518:Neurofibromatosis 2 / Q000235:genetics*; D025581:Neurofibromin 2 / Q000737:chemistry / Q000235:genetics*; D010375:Pedigree; D013116:Spinal Cord / Q000473:pathology*; D013226:Status Epilepticus / Q000175:diagnosis / Q000235:genetics*; D055815:Young Adult
chemical_list: D025581:Neurofibromin 2
keywords: NF2; epilepsy; merlin; neurofibromatosis type 2; novel mutation; status epilepticus