A case of QARS1 associated epileptic encephalopathy and review of epilepsy in aminoacyl-tRNA synthetase disorders-Reference-Cited by-同舟云学术

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A case of QARS1 associated epileptic encephalopathy and review of epilepsy in aminoacyl-tRNA synthetase disorders

Published:2022-02 Issue:2 Volume:44 Page:142-147
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Chan Denise L.,Rudinger-Thirion Joëlle,Frugier Magali,Riley Lisa G.,Ho Gladys,Kothur Kavitha,Mohammad Shekeeb S.

Funder

Research Foundation of Cerebral Palsy Alliance

Université de Strasbourg

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference23 articles.

1. Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy;Johannesen;Neurol Genet,2019

2. Shen YW, Zou LP. Correspondence on “Aminoacyl-tRNA synthetase deficiencies in search of common themes” by Fuchs et al. Genet Med 2021; 23: 587–8.

3. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015

4. Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures;Zhang;Am J Hum Genet,2014

5. Aminoacyl-tRNA synthetase deficiencies in search of common themes;Fuchs;Genet Med,2019

Cited by 4 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. Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy: QARS1 new variants associated with a severe phenotype in a patient;2024-07-12

2. Molecular analysis and prenatal diagnosis of seven Chinese families with genetic epilepsy;Frontiers in Neuroscience;2023-05-12

3. Levetiracetam/topiramate;Reactions Weekly;2022-06

4. Aminoacyl-tRNA Synthetases: On Anti-Synthetase Syndrome and Beyond;Frontiers in Immunology;2022-05-13

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