X连锁ALG13基因变异是女童癫痫性脑病的病因 - Suppr

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

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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

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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。

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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

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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

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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？

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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。

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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.

J Inherit Metab Dis. 2020 Nov;43(6):1333-1348. doi: 10.1002/jimd.12290. Epub 2020 Aug 5.

本文引用的文献

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.

Eur J Med Genet. 2017 Oct;60(10):541-547. doi: 10.1016/j.ejmg.2017.07.014. Epub 2017 Aug 1.

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.

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.

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.

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

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