{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T20:24:25Z","timestamp":1785183865885,"version":"3.55.0"},"reference-count":10,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2016,8,23]],"date-time":"2016-08-23T00:00:00Z","timestamp":1471910400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Telethon Network of Genetic Biobanks","award":["GTB12001J"],"award-info":[{"award-number":["GTB12001J"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:sec><jats:label\/><jats:p>The <jats:italic>FARS2<\/jats:italic> gene encodes the mitochondrial phenylalanyl\u2010tRNA synthetase and is implicated in autosomal recessive combined oxidative phosphorylation deficiency 14, a clinical condition characterized by infantile onset epilepsy and encephalopathy. Mutations in <jats:italic>FARS2<\/jats:italic> have been reported in only few patients, but a detailed description of seizures, electroencephalographic patterns, magnetic resonance imaging findings, and long\u2010term follow\u2010up is still needed. We provide a clinical report of a child with <jats:italic>FARS2<\/jats:italic>\u2010related disease manifesting drug\u2010resistant infantile spasms associated with focal seizures. By comparative genomic hybridization analysis we identified a heterozygous microdeletion in the short arm of chromosome 6, inherited from the mother, that encompasses the first coding exon of <jats:italic>FARS2<\/jats:italic>. By sequencing of the <jats:italic>FARS2<\/jats:italic> gene we identified a variant c.1156C&gt;G; p.(R386G), inherited from the father. By using standard spectrophotometric techniques in skin fibroblasts, we found a combined abnormality of complexes I and IV of the mitochondrial respiratory chain. The main clinical features of the patient included axial hypotonia, mild distal hypertonia, and psychomotor delay. The magnetic resonance imaging showed microcephaly, frontal cerebral atrophy, and signal changes of dentate nuclei. At the age of 3 years and 6 months, the patient was still under treatment with vigabatrin and he has been seizure free for the last 23 months. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37836","type":"journal-article","created":{"date-parts":[[2016,8,23]],"date-time":"2016-08-23T08:42:47Z","timestamp":1471941767000},"page":"3004-3007","source":"Crossref","is-referenced-by-count":26,"title":["Clinical findings in a patient with <i>FARS2<\/i> mutations and early\u2010infantile\u2010encephalopathy with epilepsy"],"prefix":"10.1002","volume":"170","author":[{"given":"Federico","family":"Raviglione","sequence":"first","affiliation":[{"name":"Paediatric Neurology Unit Children's Hospital V. Buzzi Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgio","family":"Conte","sequence":"additional","affiliation":[{"name":"Postgraduation School in Radiodiagnostics Universit\u00e0 degli Studi di Milano Milan Italy"},{"name":"Department of Paediatric Radiology and Neuroradiology Children's Hospital V. Buzzi Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniele","family":"Ghezzi","sequence":"additional","affiliation":[{"name":"Molecular Neurogenetics Unit Fondazione IRCCS Istituto Neurologico \u201cCarlo Besta\u201d Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Parazzini","sequence":"additional","affiliation":[{"name":"Department of Paediatric Radiology and Neuroradiology Children's Hospital V. Buzzi Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Righini","sequence":"additional","affiliation":[{"name":"Department of Paediatric Radiology and Neuroradiology Children's Hospital V. Buzzi Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaella","family":"Vergaro","sequence":"additional","affiliation":[{"name":"Paediatric Neurology Unit Children's Hospital V. Buzzi Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Legati","sequence":"additional","affiliation":[{"name":"Molecular Neurogenetics Unit Fondazione IRCCS Istituto Neurologico \u201cCarlo Besta\u201d Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigina","family":"Spaccini","sequence":"additional","affiliation":[{"name":"Clinical Genetics Service Children's Hospital V. Buzzi Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serena","family":"Gasperini","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Fondazione MBBM San Gerardo Hospital Monza Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Garavaglia","sequence":"additional","affiliation":[{"name":"Molecular Neurogenetics Unit Fondazione IRCCS Istituto Neurologico \u201cCarlo Besta\u201d Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Mastrangelo","sequence":"additional","affiliation":[{"name":"Paediatric Neurology Unit Children's Hospital V. 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