因基因突变导致癫痫发作和痉挛性截瘫的播散性海绵状血管畸形 - Suppr

Suppr

超能文献

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

相似文献

Disseminated Cavernous Malformations Due to Gene Mutation Causing Seizure and Spastic Paraparesis.因基因突变导致癫痫发作和痉挛性截瘫的播散性海绵状血管畸形

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

Familial Cerebral Cavernous Malformation Syndrome with Concomitant Fourth Ventricular Ependymoma: True Association or Mere Coincidence?伴有第四脑室室管膜瘤的家族性脑海绵状血管畸形综合征：真关联还是巧合？

Cancer Genet. 2020 Jun;244:36-39. doi: 10.1016/j.cancergen.2020.04.075. Epub 2020 May 3.

Structural basis for the disruption of the cerebral cavernous malformations 2 (CCM2) interaction with Krev interaction trapped 1 (KRIT1) by disease-associated mutations.疾病相关突变破坏脑海绵状血管畸形2（CCM2）与Krev相互作用捕获蛋白1（KRIT1）相互作用的结构基础。

J Biol Chem. 2015 Jan 30;290(5):2842-53. doi: 10.1074/jbc.M114.616433. Epub 2014 Dec 18.

Clinical features of cerebral cavernous malformations patients with KRIT1 mutations.患有KRIT1突变的脑海绵状血管畸形患者的临床特征。

Ann Neurol. 2004 Feb;55(2):213-20. doi: 10.1002/ana.10804.

A Novel KRIT1/CCM1 Gene Insertion Mutation Associated with Cerebral Cavernous Malformations in a Chinese Family.一个与中国家系中脑海绵状畸形相关的新型KRIT1/CCM1基因插入突变

J Mol Neurosci. 2017 Feb;61(2):221-226. doi: 10.1007/s12031-017-0881-5. Epub 2017 Feb 3.

Mutations in KRIT1 in familial cerebral cavernous malformations.家族性脑海绵状血管畸形中KRIT1基因的突变

Neurosurgery. 2000 May;46(5):1272-7; discussion 1277-9. doi: 10.1097/00006123-200005000-00064.

A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations.一个中国家族中伴有 KRIT1/CCM1 突变和 NOTCH3 突变的多发性脑海绵状血管畸形。

Neurogenetics. 2023 Apr;24(2):137-146. doi: 10.1007/s10048-023-00714-y. Epub 2023 Mar 9.

Molecular genetic features and clinical manifestations in Chinese familial cerebral cavernous malformation: from a novel KRIT1/CCM1 mutation (c.1119dupT) to an overall view.中国家族性脑海绵状血管畸形的分子遗传学特征与临床表现：从一个新的KRIT1/CCM1突变（c.1119dupT）到整体概述

Front Neurosci. 2023 May 5;17:1184333. doi: 10.3389/fnins.2023.1184333. eCollection 2023.

Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1).与脑海绵状血管畸形（CCM1）相关的KRIT1基因的突变及表达分析

Acta Neuropathol. 2002 Sep;104(3):231-40. doi: 10.1007/s00401-002-0552-6. Epub 2002 Jun 26.

Cerebral cavernous malformations: mutations in Krit1.脑海绵状血管畸形：Krit1基因的突变

Neurology. 2002 Mar 26;58(6):853-7. doi: 10.1212/wnl.58.6.853.

本文引用的文献

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.

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.

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.

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.

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.

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.

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.

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.

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.

[Multiple cerebral cavernous malformations: typical pattern on MR imaging and appearence of a new lesion in the follow-up MRI].[多发性脑海绵状血管畸形：磁共振成像的典型表现及随访磁共振成像中一个新病灶的出现]

Rontgenpraxis. 2004;55(5):200-2.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验