Novel neurofibromatosis type 2 mutation presenting with status epilepticus

Jacopo C. DiFrancesco, Roberta Sestini, Federica Cossu, Martino Bolognesi, Elena Sala, Silvana Mariani, Enrico Saracchi, Laura Papi, Carlo Ferrarese

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)132-137
Number of pages6
JournalEpileptic Disorders
Volume16
Issue number1
DOIs
Publication statusPublished - 2014

Keywords

  • Epilepsy
  • Merlin
  • Neurofibromatosis type 2
  • NF2
  • Novel mutation
  • Status epilepticus

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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