Clinical and Experimental Pediatrics

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Two cases of familial cerebral cavernous malformation caused by mutations in the CCM1 gene

Im-Yong Yang, Mi-Sun Yum, Eun-Hee Kim, Hae-Won Choi, Han-Wook Yoo, Tae-Sung Ko

Clin Exp Pediatr. 2016;59(6):280-284. Published online June 30, 2016
DOI: https://doi.org/10.3345/kjp.2016.59.6.280

Two cases of familial cerebral cavernous malformation caused by mutations in theCCM1gene

Im-Yong Yang, Mi-Sun Yum, Eun-Hee Kim, Hae-Won Choi, Han-Wook Yoo, Tae-Sung Ko

Korean Journal of Pediatrics. 2016;59(6):280

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Familial cerebral cavernous malformation presenting with epilepsy caused by mutation in the CCM2 gene

Kazuhiro Ishii, Naoki Tozaka, Satoshi Tsutsumi, Ai Muroi, Akira Tamaoka

Medicine. 2020;99(29):e19800

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A novel CCM1/KRIT1 heterozygous deletion mutation (c.1919delT) in a Chinese family with familial cerebral cavernous malformation

Chenlong Yang, Bingquan Wu, Haohao Zhong, Yan Li, Xingzheng Zheng, Yulun Xu

Clinical Neurology and Neurosurgery. 2018;164:44-46

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First Report of Concomitant Pathogenic Mutations Within MGC4607/CCM2 and KRIT1/CCM1 in a Familial Cerebral Cavernous Malformation Patient

Gustavo da Fontoura Galvão, Elielson Veloso da Silva, Fabrícia Lima Fontes-Dantas, Ricardo Castro Filho, Soniza Alves-Leon, Jorge Marcondes de Souza

World Neurosurgery. 2020;142:481-486.e1

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CCM1 gene deletion identified by MLPA in cerebral cavernous malformation

Sabine Gaetzner, Sonja Stahl, Oguzkan Sürücü, Anne Schaafhausen, Birgit Halliger-Keller, Helmut Bertalanffy, Ulrich Sure, Ute Felbor

Neurosurgical Review. 2006;30(2):155-160

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A Chinese Family With Cerebral Cavernous Malformation Caused by a Frameshift Mutation of the CCM1 Gene: A Case Report and Review of the Literature

Wenyu Liu, Ming Liu, Di Lu, Jiwei Wang, Zexin Cao, Xuchen Liu, Zichao Feng, Bin Huang, Xinyu Wang

Frontiers in Neurology. 2022;13:

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KRIT1 ankyrin repeat containing (KRIT1; CCM1); cerebral cavernous malformation 2 (CCM2); programmed cell death 10 (PDCD10; CCM3)

Science-Business eXchange. 2010;3(28):861-861

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Two-hit mechanism in cerebral cavernous malformation? A case of monozygotic twins with a CCM1/KRIT1 germline mutation

Philipp Dammann, Ute Hehr, Sabine Weidensee, Yuan Zhu, Rüdiger Gerlach, Ulrich Sure

Neurosurgical Review. 2013;36(3):483-486

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Cerebral Cavernous Malformation: A Portuguese Family with a Novel CCM1 Mutation

João Pedro Marto, Inês Gil, Sofia Calado, Miguel Viana-Baptista

Case Reports in Neurology. 2016;8(3):193-198

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Mutation Analysis of CCM1, CCM2 and CCM3 Genes in a Cohort of Italian Patients with Cerebral Cavernous Malformation

Rosalia D'Angelo, Valeria Marini, Carmela Rinaldi, Paola Origone, Alessandra Dorcaratto, Maria Avolio, Luca Goitre, Marco Forni, Valeria Capra, Concetta Alafaci, Cristina Mareni, Cecilia Garrè, Placido Bramanti, Antonina Sidoti, Saverio Francesco Retta, Aldo Amato

Brain Pathology. 2010;21(2):215-224

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