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Disseminated Cavernous Malformations Due to Gene Mutation Causing Seizure and Spastic Paraparesis.

作者信息

Gomathy Saranya B, Das Animesh, Garg Ajay, Srivastava Achal K

机构信息

Department of Neurology, Sree Chitra Institute for Medical Sciences and Technology, Kerala, India.

Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.

出版信息

Ann Indian Acad Neurol. 2024 Jan-Feb;27(1):92-94. doi: 10.4103/aian.aian_688_23. Epub 2023 Dec 8.

DOI:10.4103/aian.aian_688_23
PMID:38495229
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10941907/
Abstract
摘要

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本文引用的文献

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CCM1 and CCM2 variants in patients with cerebral cavernous malformation in an ethnically Chinese population in Taiwan.在台湾的一个汉族人群中，脑内海绵状血管畸形患者的 CCM1 和 CCM2 变异体。
Sci Rep. 2019 Aug 27;9(1):12387. doi: 10.1038/s41598-019-48448-y.
2
Coexistence of Intracranial and Spinal Cord Cavernous Malformations Predict Aggressive Clinical Presentation.颅内和脊髓海绵状血管畸形并存预示着侵袭性临床表现。
Front Neurol. 2019 Jun 13;10:618. doi: 10.3389/fneur.2019.00618. eCollection 2019.
3
Familial Cerebral Cavernous Malformations.
家族性脑海绵状血管畸形
Stroke. 2019 May;50(5):1294-1301. doi: 10.1161/STROKEAHA.118.022314.
4
Novel loss of function mutation in KRIT1/CCM1 is associated with distinctly progressive cerebral and spinal cavernous malformations after radiochemotherapy for intracranial malignant germ cell tumor.KRIT1/CCM1基因的新型功能丧失突变与颅内恶性生殖细胞肿瘤放化疗后明显进展的脑和脊髓海绵状血管畸形相关。
Childs Nerv Syst. 2017 Aug;33(8):1275-1283. doi: 10.1007/s00381-017-3434-x. Epub 2017 May 9.
5
Synopsis of Guidelines for the Clinical Management of Cerebral Cavernous Malformations: Consensus Recommendations Based on Systematic Literature Review by the Angioma Alliance Scientific Advisory Board Clinical Experts Panel.脑海绵状血管畸形临床管理指南概要：基于血管瘤联盟科学咨询委员会临床专家小组系统文献综述的共识建议
Neurosurgery. 2017 May 1;80(5):665-680. doi: 10.1093/neuros/nyx091.
6
Two cases of familial cerebral cavernous malformation caused by mutations in the CCM1 gene.两例由CCM1基因突变引起的家族性脑海绵状血管畸形。
Korean J Pediatr. 2016 Jun;59(6):280-4. doi: 10.3345/kjp.2016.59.6.280. Epub 2016 Jun 30.
7
Management of cerebral cavernous malformations: from diagnosis to treatment.脑海绵状血管畸形的管理：从诊断到治疗
ScientificWorldJournal. 2015;2015:808314. doi: 10.1155/2015/808314. Epub 2015 Jan 5.
8
A novel KRIT1 gene mutation in a patient with cerebral and multiple spinal cavernous malformations.一名患有脑部和多发性脊髓海绵状血管畸形患者的新型KRIT1基因突变。
Ann Clin Lab Sci. 2010 Summer;40(3):290-4.
9
KRIT-1/CCM1 is a Rap1 effector that regulates endothelial cell cell junctions.KRIT-1/CCM1是一种调节内皮细胞间连接的Rap1效应蛋白。
J Cell Biol. 2007 Oct 22;179(2):247-54. doi: 10.1083/jcb.200705175.
10
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Rontgenpraxis. 2004;55(5):200-2.