Novel neurofibromatosis type 2 mutation presenting with status epilepticus

作者：DiFrancesco Jacopo C^*; Sestini Roberta; Cossu Federica; Bolognesi Martino; Sala Elena; Mariani Silvana; Saracchi Enrico; Papi Laura; Ferrarese Carlo

来源：Epileptic Disorders, 2014, 16(1): 132-137.

DOI：10.1684/epd.2014.0647

• neurofibromatosis type 2
• epilepsy
• status epilepticus
• NF2
• merlin
• novel mutation

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.

• 出版日期2014-3