Associated Papers
QARS1 associated developmental epileptic encephalopathy: first report of a rare homozygous missense variant from Pakistan causing nonepileptic phenotype in a family of seven patients and a comprehensive review of the literature.
Ahmad R et al.
Molecular Biology Reports, 2025
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy.
Johannesen KM et al.
Neurology. Genetics, 2019
Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation.
Leshinsky-Silver E et al.
Neurogenetics, 2017
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