Associated Papers
Novel mutation in PARS2 revealed highly variable phenotype of developmental and epileptic encephalopathy-75.
Hu X et al.
Gene, 2024
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep.
Licchetta L et al.
Molecular Genetics & Genomic Medicine, 2024
PARS2-associated mitochondrial disease: A case report of a patient with prolonged survival and literature review.
A Almuqbil M et al.
Molecular Genetics and Metabolism Reports, 2020
The genotypic and phenotypic spectrum of PARS2-related infantile-onset encephalopathy.
Yin X et al.
Journal of Human Genetics, 2018
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