Frontiers in Pediatrics, 2022 BackgroundThe clinical benefit of surgery for the treatment of cerebral cavernous malformation (CCM)-related epilepsy in pediatric patients is still controversial.
Xiangyu Gao +10 more
doaj +1 more source
Bringing CCM into a dish: cell culture models for cerebral cavernous malformations
Medizinische Genetik, 2021 Abstract Cerebral cavernous malformations (CCMs) are vascular lesions that can cause severe neurological complications due to intracranial hemorrhage. Although the CCM disease genes, CCM1, CCM2, and CCM3, have been known for more than 15 years now, our understanding of CCM pathogenesis is still incomplete.
Skowronek, Dariush +5 more
openaire +2 more sources
Is Location Everything? Regulation of the Endothelial CCM Signaling Complex
Frontiers in Cardiovascular Medicine, 2022 Recent advances have steadily increased the number of proteins and pathways known to be involved in the development of cerebral cavernous malformation (CCM).
Harsha Swamy, Angela J. Glading
doaj +1 more source
Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene [PDF]
, 2003 Background Cerebral cavernous malformations (CCM) present as either sporadic or autosomal dominant conditions with incomplete penetrance of symptoms. Differences in genetic and environmental factors might be minimized among first-degree relatives.
Miguel Lucas +18 more
core +3 more sources
The multifaceted PDCD10/CCM3 gene
Genes and Diseases, 2021 The programmed cell death 10 (PDCD10) gene was originally identified as an apoptosis-related gene, although it is now usually known as CCM3, as the third causative gene of cerebral cavernous malformation (CCM).
Mariaelena Valentino +2 more
doaj +1 more source
Cerebral Cavernous Malformations and Focal Drug-Resistant Epilepsy: Behind a Quid Pro Quo of Lesion and Epileptogenic Networks. [PDF]
Eur J NeurolABSTRACT Background Cerebral cavernous malformations (CCMs) contribute to focal drug‐resistant epilepsy (fDRE), with surgical outcomes varying due to an incomplete understanding of the interplay between CCM‐impacted regions and areas exhibiting ictal or interictal epileptogenicity.
Bratu IF +12 more
europepmc +2 more sources
Cerebral Cavernous Malformation: Immune and Inflammatory Perspectives
Frontiers in Immunology, 2022 Cerebral cavernous malformation (CCM) is a type of vascular anomaly that arises due to the dyshomeostasis of brain capillary networks. In the past two decades, many advances have been made in this research field.
Tianqi Tu +6 more
doaj +1 more source
A novel CCM2 variant in a family with non-progressive cognitive complaints and cerebral microbleeds [PDF]
, 2017 Lobar cerebral microbleeds are most often sporadic and associated with Alzheimer's disease. The aim of our study was to identify the underlying genetic defect in a family with cognitive complaints and multiple lobar microbleeds and a positive family ...
Barkhof, F. (Frederik) +9 more
core +4 more sources
Two cases of familial cerebral cavernous malformation caused by mutations in the gene [PDF]
Korean Journal of Pediatrics, 2016 Cerebral cavernous malformation (CCM) is a vascular malformation characterized by abnormally enlarged capillary cavities without any intervening neural tissue.
Im-Yong Yang +5 more
doaj +1 more source
Case series of giant Cavernomas: Clinical presentation and management recommendations
Interdisciplinary Neurosurgery, 2022 Background: Cavernous malformations are vascular anomalies filled with blood at different stages, nonetheles, there is no precise definition for giant cavernomas. Literature suggests a cut-off at 6 cm to classify them as giant.
Christian J. Sandoval Ramírez +7 more
doaj +1 more source