ArticleFrontiers in neurology2022
A Chinese Family With Cerebral Cavernous Malformation Caused by a Frameshift Mutation of the
Article in Frontiers in neurology, 2022. 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, 3 citations in OpenAlex.
- Unraveling Etiological Indications and Therapeutic Implications of Familial Cerebral Cavernous Malformations in the Dawn of Gene Therapy for Monogenic Conditions.Current gene therapy · 2025Article
- 3D Slicer and 3D printing localization combined with neuroendoscopic surgery for the treatment of deep cerebral cavernous hemangioma.Scientific reports · 2024Article
- Molecular genetic features and clinical manifestations in Chinese familial cerebral cavernous malformation: from a novel KRIT1/CCM1 mutation (c.1119dupT) to an overall view.Frontiers in neuroscience · 2023Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
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Abstract
Background: Familial cerebral cavernous malformation (FCCM) is a vascular malformation disease closely linked to three identified genes: Case presentation: The proband in the family in question demonstrated a series of clinical symptoms and features, including headache and bleeding. The proband was hospitalized for headache twice and, both times was examined under suspicion of CCM and received surgical treatment. Magnetic resonance imaging results showed that the proband had multiple intracranial vascular lesions, including on the brain, brainstem, and cerebellum. Genetic test results showed that the classic Conclusions: We report a case of Chinese FCCM and its associated symptoms with
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