• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

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

X-Linked ALG13 Gene Variant as a Cause of Epileptic Encephalopathy in Girls.

作者信息

Madaan Priyanka, Negi Sandeep, Sharma Rajni, Kaur Anupriya, Sahu Jitendra Kumar

机构信息

Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.

Department of Pediatrics, PGIMER, Chandigarh, India.

出版信息

Indian J Pediatr. 2019 Nov;86(11):1072-1073. doi: 10.1007/s12098-019-03059-3. Epub 2019 Aug 23.

DOI:10.1007/s12098-019-03059-3
PMID:31444733
Abstract
摘要

相似文献

1
X-Linked ALG13 Gene Variant as a Cause of Epileptic Encephalopathy in Girls.X连锁ALG13基因变异是女童癫痫性脑病的病因
Indian J Pediatr. 2019 Nov;86(11):1072-1073. doi: 10.1007/s12098-019-03059-3. Epub 2019 Aug 23.
2
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.X 连锁、婴儿起病的 ALG13 相关发育性和癫痫性脑病的表型谱。
Epilepsia. 2021 Feb;62(2):325-334. doi: 10.1111/epi.16761. Epub 2021 Jan 7.
3
Exome sequence identified a c.320A > G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature.外显子组测序在一名患有糖基化正常且随机X染色体失活的婴儿型癫痫性脑病女性中鉴定出一个c.320A＞G的ALG13变异体：文献综述
Eur J Med Genet. 2017 Oct;60(10):541-547. doi: 10.1016/j.ejmg.2017.07.014. Epub 2017 Aug 1.
4
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.29 例 ALG13 缺陷症患者的主要和新型新生变异：临床描述、生物标志物状态、生化分析和治疗建议。
J Inherit Metab Dis. 2020 Nov;43(6):1333-1348. doi: 10.1002/jimd.12290. Epub 2020 Aug 5.
5
De novo mutations in epileptic encephalopathies.癫痫性脑病中的从头突变。
Nature. 2013 Sep 12;501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11.
6
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.遗传性婴儿痉挛综合征的遗传学特征：来自印度的 124 例患儿的多中心队列研究。
Epilepsia Open. 2023 Dec;8(4):1383-1404. doi: 10.1002/epi4.12811. Epub 2023 Aug 25.
7
Early Infantile Epileptic Encephalopathy In Asparagine-Linked Glycosylation Thirteen (ALG13) Gene Defect And Dramatic Response With Ketogenic Diet.天冬酰胺连接糖基化十三型（ALG13）基因缺陷所致早发性婴儿癫痫性脑病及生酮饮食的显著疗效
J Pak Med Assoc. 2023 Jul;73(7):1521-1523. doi: 10.47391/JPMA.6750.
8
High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.与婴儿运动障碍相关的早发性癫痫性脑病中基因改变的高患病率。
Brain Dev. 2016 Mar;38(3):285-92. doi: 10.1016/j.braindev.2015.09.011. Epub 2015 Oct 23.
9
Is X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy a congenital disorder of glycosylation?X连锁婴儿期起病的ALG13相关发育性和癫痫性脑病是一种先天性糖基化障碍吗？
Epilepsia. 2021 Feb;62(2):335-336. doi: 10.1111/epi.16817. Epub 2021 Feb 11.
10
Novel European SLC1A4 variant: infantile spasms and population ancestry analysis.新型欧洲SLC1A4变体：婴儿痉挛症与群体血统分析
J Hum Genet. 2016 Aug;61(8):761-4. doi: 10.1038/jhg.2016.44. Epub 2016 May 19.

引用本文的文献

1
ALG13-Related Epilepsy: Current Insights and Future Research Directions.与ALG13相关的癫痫：当前见解与未来研究方向
Neurochem Res. 2024 Dec 14;50(1):60. doi: 10.1007/s11064-024-04300-y.
2
Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype-Phenotype Correlation.三位男性患者携带 ALG13:c.320A>G 变异，表型相似：可能的基因型-表型相关性。
Mol Genet Genomic Med. 2024 Sep;12(9):e70010. doi: 10.1002/mgg3.70010.
3
ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.

本文引用的文献

1
Knowledge, Attitude and Practice (KAP) Study of Pediatricians on Infantile Spasms.儿科医生对婴儿痉挛症的知识、态度和实践（KAP）研究。
Indian J Pediatr. 2018 Oct;85(10):836-840. doi: 10.1007/s12098-018-2630-3. Epub 2018 Feb 14.
2
Exome sequence identified a c.320A > G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature.外显子组测序在一名患有糖基化正常且随机X染色体失活的婴儿型癫痫性脑病女性中鉴定出一个c.320A＞G的ALG13变异体：文献综述
Eur J Med Genet. 2017 Oct;60(10):541-547. doi: 10.1016/j.ejmg.2017.07.014. Epub 2017 Aug 1.
3
ALG13 相关先天性糖基化缺陷症（ALG13-CDG）：临床和分子更新综述及临床管理指南。
Mol Genet Metab. 2024 Jun;142(2):108472. doi: 10.1016/j.ymgme.2024.108472. Epub 2024 Apr 23.
4
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.遗传性婴儿痉挛综合征的遗传学特征：来自印度的 124 例患儿的多中心队列研究。
Epilepsia Open. 2023 Dec;8(4):1383-1404. doi: 10.1002/epi4.12811. Epub 2023 Aug 25.
5
Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG.Alg13 活性和 Alg13-Alg14 复合物形成中 Asn107Ser 突变效应的结构分析及 ALG13-CDG 表型变异性的扩展。
Biomolecules. 2022 Mar 4;12(3):398. doi: 10.3390/biom12030398.
6
The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant.对携带c.320A>G变异导致的癫痫和ALG13-CDG患儿的首次代谢组学分析。
Children (Basel). 2021 Mar 23;8(3):251. doi: 10.3390/children8030251.
7
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.ALG13 伴 X 连锁智力障碍：新变异体、糖基化分析和扩展表型。
J Inherit Metab Dis. 2021 Jul;44(4):1001-1012. doi: 10.1002/jimd.12378. Epub 2021 Mar 26.
8
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.X 连锁、婴儿起病的 ALG13 相关发育性和癫痫性脑病的表型谱。
Epilepsia. 2021 Feb;62(2):325-334. doi: 10.1111/epi.16761. Epub 2021 Jan 7.
9
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.29 例 ALG13 缺陷症患者的主要和新型新生变异：临床描述、生物标志物状态、生化分析和治疗建议。
J Inherit Metab Dis. 2020 Nov;43(6):1333-1348. doi: 10.1002/jimd.12290. Epub 2020 Aug 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.
4
Girls with Seizures Due to the c.320A>G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard Testing.因ALG13基因c.320A>G变异而癫痫发作的女孩在标准检测中未显示异常糖基化模式。
JIMD Rep. 2015;22:95-8. doi: 10.1007/8904_2015_416. Epub 2015 Mar 3.
5
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.通过全外显子组测序鉴定 I 型糖基化先天性疾病的相关基因。
Hum Mol Genet. 2012 Oct 1;21(19):4151-61. doi: 10.1093/hmg/dds123. Epub 2012 Apr 5.