{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T11:39:51Z","timestamp":1789990791225,"version":"4.0.1"},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,8,24]],"date-time":"2016-08-24T00:00:00Z","timestamp":1471996800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2016,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Missense mutations in <jats:italic>kinesin family member 5A (KIF5A)<\/jats:italic> cause spastic paraplegia 10. We report on 2 patients with <jats:italic>de novo<\/jats:italic> stop\u2010loss frameshift variants in <jats:italic>KIF5A<\/jats:italic> resulting in a novel phenotype that includes severe infantile onset myoclonus, hypotonia, optic nerve abnormalities, dysphagia, apnea, and early developmental arrest. We propose that alteration and elongation of the carboxy\u2010terminus of the protein has a dominant\u2010negative effect, causing mitochondrial dysfunction in the setting of an abnormal kinesin \u201cmotor.\u201d These results highlight the role of expanded testing and whole\u2010exome sequencing in critically ill infants and emphasize the importance of accurate test interpretation. Ann Neurol 2016;80:633\u2013637<\/jats:p>","DOI":"10.1002\/ana.24744","type":"journal-article","created":{"date-parts":[[2016,7,27]],"date-time":"2016-07-27T23:02:54Z","timestamp":1469660574000},"page":"633-637","source":"Crossref","is-referenced-by-count":65,"title":["<i>KIF5A<\/i> mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction"],"prefix":"10.1002","volume":"80","author":[{"given":"Jessica","family":"Duis","sequence":"first","affiliation":[{"name":"McKusick\u2010Nathans Institute of Genetic Medicine Department of Pediatrics, Johns Hopkins University School of Medicine Baltimore MD"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shannon","family":"Dean","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Johns Hopkins University School of Medicine Baltimore 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