Cerebral cavernous malformation etiology

• Single-cell transcriptome profiling reveals dynamic cell populations and immune infiltration in cerebral cavernous malformation
• Compound Heterozygous Loss-of-Function Variants in CCM2L in a Fetus With Tetralogy of Fallot
• Clinical characteristics and management of cerebral developmental venous anomalies accompanied with cavernous malformation
• High-throughput differentiation of human blood vessel organoids reveals overlapping and distinct functions of the cerebral cavernous malformation proteins
• First report of PDCD10 somatic mutation in liver cavernous malformation
• Intramedullary Cavernoma with Hematomyelia and Unusual Clinical Findings of Brown-Sequard Syndrome: A Case Report
• Predictors of postoperative epileptic seizures after microsurgical treatment in supratentorial single cerebral cavernous malformations: a retrospective study
• Silencing <em>KRIT1</em> Partially Reverses the Effects of Disturbed Flow on the Endothelial Cell Transcriptome

Cerebral cavernous malformation (CM) is a sporadic vascular malformation occurring either as an autosomal dominant condition or as a well-known complication of radiation exposure.

CCMs arise due to loss of function in one of the genes that encode the CCM complex, a negative regulator of MEKK3-KLF2/4 signaling in vascular endothelial cells. Gain-of-function mutations in PIK3CA (encoding the enzymatic subunit of the PI3K (phosphoinositide 3-kinase) pathway associated with cell growth) synergize with CCM gene loss-of-function to generate rapidly growing lesions ¹⁾

see Radiation induced cerebral cavernous malformation.

see Cerebral cavernous malformation pathogenesis.