Novel neurofibromatosis type 2 mutation presenting with status epilepticus. Issue 1 (March 2014)

• Record Type: Journal Article
• Authors: DiFrancesco, Jacopo C.; Sestini, Roberta; Cossu, Federica; Bolognesi, Martino; Sala, Elena; Mariani, Silvana; Saracchi, Enrico; Papi, Laura; Ferrarese, Carlo
• Is Part Of: Epileptic disorders. Volume 16:Issue 1(2014:Mar.)
• Page Start: 132
• Page End: 137
• Publication Date: 2014-03
• Subjects: Epilepsy -- Periodicals; 616.853
• DOI: 10.1684/epd.2014.0647
• Languages: English
• ISSNs: 1294-9361

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Neurofibromatosis type 2 (NF2) is a dominantly inherited syndrome caused by mutations of the tumour‐suppressor <italic>NF2</italic>, 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 <italic>NF2</italic>, 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.</p> </abstract>