Epilepsy-linked mutations

首页> 外文期刊>Nature >Epilepsy-linked mutations

【24h】

Epilepsy-linked mutations

机译：癫痫相关突变

获取原文

获取原文并翻译 | 示例

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

摘要
著录项
相似文献
相关主题

摘要

An extensive exome-sequencing study of patients with two 'classical' epileptic encephalopathies - infantile spasms and Lennox-Gastaut syndrome - has found an excess of de novo mutations in the approximately 4,000 genes that are the most intolerant to functional genetic variation in the human population. Among them are mutations in GABRB3 and ALG13, both showing statistical evidence of an association with epileptic encephalopathy. As in autism spectrum disorders, these de novo mutations are enriched in genes regulated by fragile X protein.

机译：一项广泛的外显子测序研究对患有两种“经典”癫痫性脑病（婴儿痉挛症和Lennox-Gastaut综合征）的患者进行了研究，发现大约4,000个基因中的从头突变过多，这些基因对人类的功能遗传变异最不耐受。其中有GABRB3和ALG13突变，均显示出与癫痫性脑病相关的统计证据。与自闭症谱系障碍一样，这些从头突变会富含脆弱的X蛋白调控的基因。

著录项

来源
《Nature》 |2013年第7462期|277-277|共1页
作者

展开▼
作者单位

展开▼
收录信息美国《科学引文索引》(SCI);美国《工程索引》(EI);美国《生物学医学文摘》(MEDLINE);美国《化学文摘》(CA);
原文格式 PDF
正文语种 eng
中图分类
关键词

相似文献

外文文献
中文文献
专利

1. Slc7a5 regulates Kv1.2 channels and modifies functional outcomes of epilepsy-linked channel mutations [J] . Victoria A. Baronas, Runying Y. Yang, Luis Carlos Morales, Nature Communications . 2018,第1期

机译：Slc7a5调节Kv1.2通道并修饰癫痫相关通道突变的功能结果
2. Dihydropyrimidinone Positive Modulation of δ-Subunit-Containing γ-Aminobutyric Acid Type A Receptors, Including an Epilepsy-Linked Mutant Variant [J] . Ryan W. Lewis John Mabry Jason G. Polisar Kyle P. Eagen Bruce Ganem and George P. Hess Biochemistry . 2010,第23期

机译：二氢嘧啶酮正调制的δ-亚基的γ-氨基丁酸A型受体，包括癫痫相关联的突变体。
3. Mechanism of Potentiation of a Dysfunctional Epilepsy-Linked Mutated GABAA Receptor by a Neurosteroid (3α, 21-Dihydroxy-5α-pregnan-20-one): Transient Kinetic Investigations [J] . Latha Ramakrishnan and George P. Hess Biochemistry . 2010,第36期

机译：神经类固醇（3α，21-Dihydroxy-5α-pregnan-20-one）增强功能障碍性癫痫相关突变GABAA受体的机制：瞬态动力学研究。
4. PAS-MUT with Somatic Mutations in Cancer and Classified Diseases for Clinical-Genomics Research: PAS-MUT Somatic Mutations [C] . Saman Zeeshan, Zeeshan Ahmed IEEE International Conference on Bioinformatics and Biomedicine . 2019

机译：具有癌症和分类疾病中的体细胞突变的PAS-MUT用于临床基因组学研究：PAS-MUT和体细胞突变
5. Computational assessment of somatic missense mutations detected in tumor sequencing studies with cancer-specific high-throughput annotation of somatic mutations (CHASM). [D] . Carter, Hannah. 2012

机译：具有肿瘤特异性高通量体细胞突变（CHASM）的肿瘤测序研究中检测到的体细胞错义突变的计算评估。
6. Slc7a5 regulates Kv1.2 channels and modifies functional outcomes of epilepsy-linked channel mutations [O] . Victoria A. Baronas, Runying Y. Yang, Luis Carlos Morales, -1

机译：Slc7a5调节Kv1.2通道并修饰癫痫相关通道突变的功能结果
7. Two novel epilepsy-linked mutations leading to a loss of function of LGI1. [O] . Chabrol, Elodie, Popescu, Cyprian, Gourfinkel-An, Isabelle, 2007

机译：两个新的癫痫病相关突变导致LGI1功能丧失。
8. Complex Frameshift Mutations Mediated by Plasmid pKM101: Mutational MechanismsDeduced from 4-Aminobiphenyl-Induced Mutation Spectra in Salmonella [R] . Levine, J. G., Schaaper, R. M., DeMarini, D. M. 1994

机译：质粒pKm101介导的复杂移码突变：由4-氨基联苯诱导的沙门氏菌突变谱引起的突变机制

Epilepsy-linked mutations

摘要

著录项

相似文献

相关主题

期刊订阅