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

Familial cerebral cavernous malformation presenting with epilepsy caused by mutation in the CCM2 gene: A case report.

Medicine - 17 Jul 2020

Ishii Kazuhiro, Tozaka Naoki, Tsutsumi Satoshi, Muroi Ai, Tamaoka Akira

Abstract excerpt

RATIONALE: Cerebral cavernous malformation (CCM) of the familial type is caused by abnormalities in the CCM1, CCM2, and CCM3 genes. These 3 proteins forming a complex associate with the maintenance of vascular endothelial cell-cell junctions. Dysfunction of these proteins results in the development of hemangiomas and abnormal intercellular junctions. PATIENT CONCERNS: We report a 68-year-old man with familial...

Topics

Aged
Anticonvulsants
Carrier Proteins
Genetic Testing
Hemangioma, Cavernous
Hemangioma, Cavernous, Central Nervous System
Hemorrhage
Humans
Levetiracetam
Magnetic Resonance Imaging
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Seizures

Treatment Outcome

Source

Open in PubMed Open full text

Identifiers

PMID: 32702807
DOI: 10.1097/MD.0000000000019800
PMCID: PMC7373609

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-32702807-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Familial cerebral cavernous malformation presenting with epilepsy caused by mutation in the CCM2 gene: A case report.PMID 32702807Read ↗

Genetics of cerebral cavernous malformations: current status and future prospects.Semantic proximity Read ↗

Cerebral cavernous malformations - An overview on genetics, clinical aspects and therapeutic strategies.Semantic proximity Read ↗

Genetic and cellular basis of cerebral cavernous malformations: implications for clinical management.Semantic proximity Read ↗

Cerebral Cavernous Malformations: Review of the Genetic and Protein–Protein Interactions Resulting in Disease PathogenesisSemantic proximity Read ↗

Cerebral cavernous malformation: new molecular and clinical insightsSemantic proximity Read ↗

Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management.Semantic proximity Read ↗

Clinical, neuroradiological and genetic findings in a cohort of patients with multiple Cerebral Cavernous Malformations.Semantic proximity Read ↗

Cerebral cavernous malformations as a disease of vascular permeability: from bench to bedside with caution.Semantic proximity Read ↗

Prevalence, genetic and clinical characteristics in first-degree relatives of patients with familial cerebral cavernous malformations in China.Semantic proximity Read ↗

Cerebral Cavernous Malformation: From Genetics to Pharmacotherapy.Semantic proximity Read ↗

Recent insights into cerebral cavernous malformations: the molecular genetics of CCM.Semantic proximity Read ↗

Sporadic multiple cerebral cavernomatosis: report of a case and review of literature.Semantic proximity Read ↗

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