Article
A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations.
Neurogenetics - 1 Apr 2023
Li Chunwang, Liu Penghui, Huang Weilin, Wang Haojie, Ma Ke, Zhuo Lingyun, Kang Yaqing, He Qiu, Lin Yuanxiang, Kang Dezhi, Lin Fuxin
Abstract excerpt
Family cerebral cavernous malformations (FCCMs) are mainly inherited through the mutation of classical CCM genes, including CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10. FCCMs can cause severe clinical symptoms, including epileptic seizures, intracranial hemorrhage (ICH), or functional neurological...
Topics
- Female
- Humans
- Hemangioma, Cavernous, Central Nervous System
- Proto-Oncogene Proteins
- East Asian People
- Microtubule-Associated Proteins
- Pedigree
- Mutation
- KRIT1 Protein
- Receptor, Notch3