Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0038220 (
status epilepticus
)
7,272
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:Novel neurofibromatosis type 2 mutation presenting with status epilepticus. 2466 35
