A patient with juvenile-onset refractory status epilepticus caused by two novel compound heterozygous mutations in FARS2 gene
Author:
Affiliation:
1. Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China
Publisher
Informa UK Limited
Subject
General Medicine,General Neuroscience
Link
https://www.tandfonline.com/doi/pdf/10.1080/00207454.2019.1634071
Reference20 articles.
1. Mitochondrial aminoacyl-tRNA synthetases in human disease
2. Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy
3. Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
4. Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency
5. Mutations inFARS2and non-fatal mitochondrial dysfunction in two siblings
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