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

Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling

1 Jan 2018

Abstract excerpt

Based on the latest gnomAD dataset, the prevalence of symptomatic hereditary cerebral cavernous malformations (CCMs) prone to cause epileptic seizures and stroke-like symptoms was re-evaluated in this review and calculated to be 1:5,400-1:6,200. Furthermore, state-of-the-art molecular genetic analyses of the known <i>CCM</i> loci are described which reach an almost 100% mutation detection rate for...

Read the complete abstract on PubMed

Topics

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

Share to Intracerebral and Subarachnoid Hemorrhage Research
Share to Intracranial Aneurysms: Treatment and Complications
Share to Vascular Malformations Diagnosis and Treatment

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 29593473
DOI: 10.1159/000486292

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic CounsellingPMID 29593473Read ↗

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 ↗

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

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

Molecular diagnosis in cerebral cavernous malformations.Semantic proximity Read ↗

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

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one‐third of probands are minorsSemantic proximity Read ↗

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

Molecular Genetic Screening of CCM Patients: An Overview.Semantic proximity Read ↗

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

Comprehensive analysis of Novel mutations in CCM1/KRIT1 and CCM2/MGC4607 and their clinical implications in Cerebral Cavernous malformations.Semantic proximity Read ↗

Sporadic cerebral cavernous malformations: report of further mutations of CCM genes in 40 Italian patients.Semantic proximity Read ↗

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