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Novel neurofibromatosis type 2 mutation presenting with status epilepticus
Author(s) -
DiFrancesco Jacopo C.,
Sestini Roberta,
Cossu Federica,
Bolognesi Martino,
Sala Elena,
Mariani Silvana,
Saracchi Enrico,
Papi Laura,
Ferrarese Carlo
Publication year - 2014
Publication title -
epileptic disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.673
H-Index - 53
eISSN - 1950-6945
pISSN - 1294-9361
DOI - 10.1684/epd.2014.0647
Subject(s) - neurofibromatosis , status epilepticus , epilepsy , neurofibromatosis type 2 , merlin (protein) , mutation , ferm domain , medicine , biology , genetics , neuroscience , suppressor , gene , membrane protein , integral membrane protein , membrane
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.