De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies.
出版信息
Am J Hum Genet. 2017 Jan 5;100(1):179. doi: 10.1016/j.ajhg.2016.12.012.
Abstract
摘要
相似文献
1
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies.包括DNM1在内的突触传递基因的新生突变导致癫痫性脑病。
Am J Hum Genet. 2017 Jan 5;100(1):179. doi: 10.1016/j.ajhg.2016.12.012.
2
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.包括DNM1在内的突触传递基因的新生突变会导致癫痫性脑病。
Am J Hum Genet. 2014 Oct 2;95(4):360-70. doi: 10.1016/j.ajhg.2014.08.013. Epub 2014 Sep 25.
3
De novo DNM1 mutations in two cases of epileptic encephalopathy.两例癫痫性脑病中的新发DNM1突变
Epilepsia. 2016 Jan;57(1):e18-23. doi: 10.1111/epi.13257. Epub 2015 Nov 27.
4
Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis.导致癫痫性脑病的 DNM1 突变会损害突触囊泡内吞作用。
Neurol Genet. 2015 Apr 17;1(1):e4. doi: 10.1212/01.NXG.0000464295.65736.da. eCollection 2015 Jun.
5
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.SLC1A2和CACNA1A基因的新发突变是癫痫性脑病的重要病因。
Am J Hum Genet. 2016 Aug 4;99(2):287-98. doi: 10.1016/j.ajhg.2016.06.003. Epub 2016 Jul 28.
6
Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies.癫痫性脑病中癫痫相关基因的新突变和表型
Genes Brain Behav. 2018 Nov;17(8):e12456. doi: 10.1111/gbb.12456. Epub 2018 Jan 26.
7
Dynamin 1 isoform roles in a mouse model of severe childhood epileptic encephalopathy.发动蛋白1亚型在儿童重症癫痫性脑病小鼠模型中的作用
Neurobiol Dis. 2016 Nov;95:1-11. doi: 10.1016/j.nbd.2016.06.014. Epub 2016 Jun 28.
8
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.由 SCN8A 基因突变引起的早发性癫痫性脑病。
Epilepsia. 2014 Jul;55(7):994-1000. doi: 10.1111/epi.12668. Epub 2014 Jun 2.
9
Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome.新生突变的 gain-of-function 和 loss-of-function CACNA1A 突变均可导致 Lennox-Gastaut 综合征谱系中的严重发育性癫痫性脑病。
Epilepsia. 2019 Sep;60(9):1881-1894. doi: 10.1111/epi.16316. Epub 2019 Aug 29.
10
Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.新发GNAO1突变所致新生儿癫痫性脑病被误诊为非典型瑞特综合征：基因组检测结果解读中的注意事项
Semin Pediatr Neurol. 2018 Jul;26:28-32. doi: 10.1016/j.spen.2017.08.008. Epub 2017 Aug 16.
引用本文的文献
1
Progressive Cone-Rod Synaptic Dysfunction in Dynamin-1 ( DNM1 ) Related Developmental and Epileptic Encephalopathy: A Distinct Retinal Phenotype in Human.动力蛋白-1（DNM1）相关的发育性和癫痫性脑病中的进行性视锥-视杆突触功能障碍：人类独特的视网膜表型
Clin Genet. 2025 Aug;108(2):194-198. doi: 10.1111/cge.14724. Epub 2025 Feb 9.
2
Clinical trials for Lennox-Gastaut syndrome: Challenges and priorities.Lennox-Gastaut 综合征的临床试验：挑战与重点。
Ann Clin Transl Neurol. 2024 Nov;11(11):2818-2835. doi: 10.1002/acn3.52211. Epub 2024 Oct 23.
3
New evidence supports as a candidate gene for developmental and epileptic encephalopathy.新证据支持[具体基因名称]作为发育性和癫痫性脑病的候选基因。 （原文中“as a candidate gene for...”前缺少具体基因名称，以上翻译为补充完整后内容）
Front Neurol. 2024 Aug 16;15:1365314. doi: 10.3389/fneur.2024.1365314. eCollection 2024.
4
Case Report: A developmental and epileptic encephalopathy 45 due to variant of .病例报告：一例由……变异导致的45型发育性和癫痫性脑病。
Front Pediatr. 2024 Apr 3;12:1346987. doi: 10.3389/fped.2024.1346987. eCollection 2024.
5
Microcircuit failure in STXBP1 encephalopathy leads to hyperexcitability.STXBP1 脑病中的微电路故障会导致过度兴奋。
Cell Rep Med. 2023 Dec 19;4(12):101308. doi: 10.1016/j.xcrm.2023.101308. Epub 2023 Dec 11.
6
The sulfonadyns: a class of aryl sulfonamides inhibiting dynamin I GTPase and clathrin mediated endocytosis are anti-seizure in animal models.磺达因类：一类抑制发动蛋白I GTP酶和网格蛋白介导的内吞作用的芳基磺胺类化合物，在动物模型中具有抗癫痫作用。
RSC Med Chem. 2023 Apr 26;14(8):1492-1511. doi: 10.1039/d2md00371f. eCollection 2023 Aug 16.
7
FASN-dependent de novo lipogenesis is required for brain development.FASN 依赖性从头合成脂质对于脑发育是必需的。
Proc Natl Acad Sci U S A. 2022 Jan 11;119(2). doi: 10.1073/pnas.2112040119.
8
Down syndrome cell adhesion molecule like-1 (DSCAML1) links the GABA system and seizure susceptibility.唐氏综合征细胞黏附分子样蛋白 1（DSCAML1）连接 GABA 系统与癫痫易感性。
Acta Neuropathol Commun. 2020 Nov 30;8(1):206. doi: 10.1186/s40478-020-01082-6.
9
Coexpression enrichment analysis at the single-cell level reveals convergent defects in neural progenitor cells and their cell-type transitions in neurodevelopmental disorders.单细胞水平的共表达富集分析揭示了神经发育障碍中神经祖细胞及其细胞类型转变的收敛缺陷。
Genome Res. 2020 Jun;30(6):835-848. doi: 10.1101/gr.254987.119. Epub 2020 Jun 18.
10
RNAi-Based Gene Therapy Rescues Developmental and Epileptic Encephalopathy in a Genetic Mouse Model.基于 RNAi 的基因治疗挽救了遗传小鼠模型中的发育性和癫痫性脑病。
Mol Ther. 2020 Jul 8;28(7):1706-1716. doi: 10.1016/j.ymthe.2020.04.007. Epub 2020 Apr 16.
Zotero 插件