Phenotypic characterization of COL4A1-related West syndrome-Reference-Cited by-同舟云学术

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Phenotypic characterization of COL4A1-related West syndrome

Published:2020-08 Issue: Volume:164 Page:106349
ISSN:0920-1211
Container-title:Epilepsy Research
language:en
Short-container-title:Epilepsy Research

Author:

Wang Qiu-Hong,Zou Li-Ping,Zhang Meng-Na,Wang Yang-Yang,Lu Qian,Shen Yan-Wen,He Wen,Chen Hui-Min,Luo Xiao-Mei,Wang Jing,Zhang Tian-Tian

Funder

National Key Research and Development Program of China

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference30 articles.

1. Col4a1 mutations cause progressive retinal neovascular defects and retinopathy;Alavi;Sci. Rep.,2016

2. Periventricular leukomalacia of infancy. A form of neonatal anoxic encephalopathy;Banker;Arch. Neurol.,1962

3. HANAC syndrome Col4a1 mutation causes neonate glomerular hyperpermeability and adult glomerulocystic kidney disease;Chen;J. Am. Soc. Nephrol.,2016

4. The epidemiology and natural history of infantile spasms;Cowan;J. Child Neurol.,1991

5. Intracerebral hemorrhage and COL4A1 and COL4A2 mutations, from fetal life into adulthood;de Vries;Ann. Neurol.,2012

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2024-07-17

2. Genotype and phenotype characteristics of West syndrome in 20 Vietnamese children: Two novel variants detected by next-generation sequencing;Epilepsy Research;2023-02

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