Case Report
Abstract
Glutaminyl-tRNA synthetase (QARS) deficiency has been described to be a cause of a neurodegenerative disorder associated with severe developmental delay, microcephaly, delayed myelination, and intractable epilepsy. The epilepsy is thought to be more severe than other tRNA synthetase disorders. Only a few cases have been reported in the literature and there is little information about response to different treatment options. The ketogenic diet is...
Paper Details
Title
Case Report
Published Date
Jan 6, 2017
Journal
Volume
32
Issue
4
Pages
403 - 407
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Notes
History