{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T22:36:23Z","timestamp":1793831783635,"version":"4.6.1"},"reference-count":11,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,3,22]],"date-time":"2017-03-22T00:00:00Z","timestamp":1490140800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000782","name":"European Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000782","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:sec><jats:label\/><jats:p>We describe the clinical and whole genome sequencing (WGS) study of a non\u2010consanguineous Italian family in which two siblings, a boy and a girl, manifesting a severe epileptic encephalopathy (EE) with skeletal abnormalities, carried novel <jats:italic>SLC35A3<\/jats:italic> compound heterozygous mutations. Both siblings exhibited infantile spasms, associated with focal, and tonic vibratory seizures from early infancy. EEG recordings showed a suppression\u2010burst (SB) pattern and multifocal paroxysmal activity in both. In addition both had quadriplegia, acquired microcephaly, and severe intellectual disability. General examination showed distal arthrogryposis predominant in the hands in both siblings and severe left dorso\u2010lumbar convex scoliosis in one. WGS of the siblings\u2010parents quartet identified novel compound heterozygous mutations in <jats:italic>SLC35A3<\/jats:italic> in both children. <jats:italic>SLC35A3<\/jats:italic> encodes the major Golgi uridine diphosphate N\u2010acetylglucosamine transporter. With this study, we add <jats:italic>SLC35A3<\/jats:italic> to the gene list of epilepsies. Neurological symptoms and skeletal abnormalities might result from impaired glycosylation of proteins involved in normal development and function of the central nervous system and skeletal apparatus.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38112","type":"journal-article","created":{"date-parts":[[2017,3,23]],"date-time":"2017-03-23T05:24:33Z","timestamp":1490246673000},"page":"1119-1123","source":"Crossref","is-referenced-by-count":24,"title":["Recessive mutations in <i>SLC35A3<\/i> cause early onset epileptic encephalopathy with skeletal defects"],"prefix":"10.1002","volume":"173","author":[{"given":"Carla","family":"Marini","sequence":"first","affiliation":[{"name":"Neurology Unit and Neurogenetics Laboratories Meyer Children Hospital Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katia","family":"Hardies","sequence":"additional","affiliation":[{"name":"Neurogenetics Group VIB\u2010Department of Molecular Genetics University of Antwerp Antwerp Belgium"},{"name":"Laboratory of Neurogenetics Institute Born\u2010Bunge University of Antwerp Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiziana","family":"Pisano","sequence":"additional","affiliation":[{"name":"Neurology Unit and Neurogenetics Laboratories Meyer Children Hospital Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"May","sequence":"additional","affiliation":[{"name":"Luxembourg Centre for Systems Biomedicine (LCSB) University of Luxembourg Luxembourg Luxembourg"},{"name":"Institute for Systems Biology (ISB) Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Weckhuysen","sequence":"additional","affiliation":[{"name":"Neurogenetics Group VIB\u2010Department of Molecular Genetics University of Antwerp Antwerp Belgium"},{"name":"Laboratory of Neurogenetics Institute Born\u2010Bunge University of Antwerp Antwerp 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