title: 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 a high-fat, low-carbohydrate diet that is used in treatment resistant epilepsy of various etiologies. There are reports that the diet can also improve neuro-cognitive parameters. The authors report a case of a patient with glutaminyl-tRNA synthetase deficiency and treatment resistant seizures where there was a marked and early favorable response in terms of seizures, alertness and behavior to the ketogenic diet.
authors.affiliation: 1 Division of Neurology, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
authors.forename: Anita
authors.initials: A
authors.lastname: Datta
authors.affiliation: 1 Division of Neurology, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
authors.forename: Alex
authors.initials: A
authors.lastname: Ferguson
authors.affiliation: 1 Division of Neurology, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
authors.forename: Chris
authors.initials: C
authors.lastname: Simonson
authors.affiliation: 1 Division of Neurology, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
authors.forename: Francesca
authors.initials: F
authors.lastname: Zannotto
authors.affiliation: 1 Division of Neurology, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
authors.forename: Aspasia
authors.initials: A
authors.lastname: Michoulas
authors.affiliation: 1 Division of Neurology, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
authors.forename: Elke
authors.initials: E
authors.lastname: Roland
authors.affiliation: 2 Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, Vancouver, BC, Canada.
authors.forename: Clara van
authors.initials: CV
authors.lastname: Karnebeek
authors.affiliation: 2 Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, Vancouver, BC, Canada.
authors.forename: Ramona
authors.initials: R
authors.lastname: Salvarinova
mesh_terms: D000604:Amino Acyl-tRNA Synthetases / Q000172:deficiency*; D001921:Brain / Q000503:physiopathology; D002648:Child; D055423:Diet, Ketogenic; D000069279:Drug Resistant Epilepsy / Q000178:diet therapy* / Q000201:enzymology / Q000523:psychology*; D004569:Electroencephalography; D006801:Humans; D008297:Male; D012640:Seizures / Q000178:diet therapy* / Q000201:enzymology / Q000523:psychology*; D016896:Treatment Outcome
chemical_list: D000604:Amino Acyl-tRNA Synthetases; C020659:glutaminyl-tRNA synthetase
keywords: antiseizure drugs; epilepsy; ketogenic diet; next-generation sequencing; refractory