ArticleBrain communications2025
Clinical and molecular landscape of paediatric cerebral and spinal cavernous malformations.
Article in Brain communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Genetic Diagnosis in Epilepsy: Implications for Clinical Management.Current neurology and neuroscience reports · 2026Review
- Pediatric Familial Cerebral Cavernous Malformation Associated With a Novel KRIT1 Initiation-Region Frameshift Variant.Molecular genetics & genomic medicine · 2026Article
- MEKK3 bridges gut-brain communication and cerebral cavernous malformation pathogenesis.Cell death discovery · 2026Review
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Authors and funding
26 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We aimed to decipher the natural history of paediatric cerebral and intraspinal medullary cavernous malformations and their genetic background, with an emphasis on the effect of mutational burden on their radiological features and haemorrhagic risk. We retrospectively collected clinical and radiological data and the natural history of the disease during the follow-up of all consecutive patients with cavernous malformations over the last 2 decades at a unique paediatric centre. We created an MRI atlas after lesion segmentation and normalization to perform voxel-based lesion symptom mapping. Targeted germline DNA sequencing of CCM1-3 genes and somatic lesions and targeted sequencing of RAS and PI3 K pathway genes were performed. In total, 257 patients carrying 786 brain and 14 spinal cavernous malformations were analysed. Age at diagnosis was 9.5 ± 5 years. Follow-up data were available for 718 lesions with a mean follow-up of 5.59 ± 3.28 years. Then, 134 brain (80 with focal onset seizures) and 10 spinal cavernous malformations were surgically excised. Furthermore, 95 of the/144 DNA extracted from lesions were successfully sequenced for somatic variants (
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