Article

Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy: QARS1 new variants associated with a severe phenotype in a patient

2024-07-12

Abstract excerpt

<title>Abstract</title> <p>Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy is a rare disease due to <italic>QARS1</italic> pathogenic variants altering the Glutaminyl-tRNA synthetase 1 activity. We report a Tunisian child presenting with neonatal onset seizures, severe psychomotor delay, retinal abnormalities and MRI cerebral supratentorial atrophy lesions. Whole exome and Sanger sequenci...

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Literature Corpus work: 664aaed6-b831-572e-9d7e-aad21a1268ac
DOI: 10.21203/rs.3.rs-4401890/v1

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