Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel neurofibromatosis type 2 mutation presenting with status epilepticus.

Epileptic disorders : international epilepsy journal with videotape - 1 Mar 2014

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

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Brain
Share to Electroencephalography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Neurofibromatosis 2

Share to Neurofibromin 2

Share to Pedigree

Share to Spinal Cord

Share to Status Epilepticus

Share to Young Adult

Source

Identifiers

PMID: 24667735
DOI: 10.1684/epd.2014.0647

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel neurofibromatosis type 2 mutation presenting with status epilepticus.PMID 24667735Read ↗

Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy.Semantic proximity Read ↗

Missense variant interaction scanning reveals a critical role of the FERM domain for tumor suppressor protein NF2 conformation and functionSemantic proximity Read ↗

Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum.Semantic proximity Read ↗

A Kv4.2 truncation mutation in a patient with temporal lobe epilepsy.Semantic proximity Read ↗

A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot.Semantic proximity Read ↗

Further genotype--phenotype correlations in neurofibromatosis 2.Semantic proximity Read ↗

Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types.Semantic proximity Read ↗

[Neurofibromatosis type 2 (NF2)--classical example of a rare familial cancer syndrome].Semantic proximity Read ↗

The structure of the FERM domain of merlin, the neurofibromatosis type 2 gene productSemantic proximity Read ↗

Lhermitte-Duclos disease with concomitant KCNT2 gene mutation: report of an extremely rare combination.Semantic proximity Read ↗

Missense variant interaction scanning reveals a critical role of the FERM-F3 domain for tumor suppressor protein NF2 conformation and functionSemantic proximity Read ↗

[Neurofibromatosis type 2 (NF2)].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.