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
Difrancesco, J., Sestini, R., Cossu, F., Bolognesi, M., Sala, E., Mariani, S., et al. (2014). Novel neurofibromatosis type 2 mutation presenting with status epilepticus. EPILEPTIC DISORDERS, 16(1), 132-137.
Citazione: | Difrancesco, J., Sestini, R., Cossu, F., Bolognesi, M., Sala, E., Mariani, S., et al. (2014). Novel neurofibromatosis type 2 mutation presenting with status epilepticus. EPILEPTIC DISORDERS, 16(1), 132-137. |
Tipo: | Articolo in rivista - Articolo scientifico |
Carattere della pubblicazione: | Scientifica |
Presenza di un coautore afferente ad Istituzioni straniere: | No |
Titolo: | Novel neurofibromatosis type 2 mutation presenting with status epilepticus |
Autori: | Difrancesco, J; Sestini, R; Cossu, F; Bolognesi, M; Sala, E; Mariani, S; Saracchi, E; Papi, L; Ferrarese, C |
Autori: | FERRARESE, CARLO (Ultimo) |
Data di pubblicazione: | 2014 |
Lingua: | English |
Rivista: | EPILEPTIC DISORDERS |
Digital Object Identifier (DOI): | http://dx.doi.org/10.1684/epd.2014.0647 |
Appare nelle tipologie: | 01 - Articolo su rivista |