{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T14:15:33Z","timestamp":1789654533379,"version":"4.0.1"},"reference-count":20,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2016,5,13]],"date-time":"2016-05-13T00:00:00Z","timestamp":1463097600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004963","name":"Seventh Framework Programme","doi-asserted-by":"publisher","award":["FP7\/2007\u20102013"],"award-info":[{"award-number":["FP7\/2007\u20102013"]}],"id":[{"id":"10.13039\/501100004963","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004963","name":"Seventh Framework Programme","doi-asserted-by":"publisher","award":["602531"],"award-info":[{"award-number":["602531"]}],"id":[{"id":"10.13039\/501100004963","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2016,10]]},"abstract":"<jats:sec>\n                    <jats:title>Aim<\/jats:title>\n                    <jats:p>\n                      Epilepsy is commonly observed in congenital disorders of glycosylation (\n                      <jats:styled-content style=\"fixed-case\">CDG<\/jats:styled-content>\n                      ), but no distinctive electroclinical pattern has been recognized. We aimed at identifying a characteristic clinical presentation that might help targeted diagnostic work\u2010up.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>\n                      Based on the initial observation of an index case with\n                      <jats:styled-content style=\"fixed-case\">CDG<\/jats:styled-content>\n                      and migrating partial seizures, we evaluated 16 additional children with\n                      <jats:styled-content style=\"fixed-case\">CDG<\/jats:styled-content>\n                      and analysed their clinical course, biochemical, genetic, electrographic, and imaging findings.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Four of 17 consecutively observed children with\n                      <jats:styled-content style=\"fixed-case\">CDG<\/jats:styled-content>\n                      (three females, one male) were first referred between the first and fourth month of life, after early onset of migrating partial seizures. All four patients manifested developmental delay, microcephaly, and multi\u2010organ involvement. Magnetic resonance imaging disclosed cerebral and cerebellar atrophy. Isoelectrofocusing of transferrin, enzymatic studies, and lipid\u2010linked oligosaccharide analysis indicated\n                      <jats:styled-content style=\"fixed-case\">CDG<\/jats:styled-content>\n                      \u2010I. Genetic testing demonstrated either homozygous or compound heterozygous variants involving the\n                      <jats:italic>\n                        <jats:styled-content style=\"fixed-case\">ALG<\/jats:styled-content>\n                        3\n                      <\/jats:italic>\n                      gene in patients 1 and 3, the\n                      <jats:italic>\n                        <jats:styled-content style=\"fixed-case\">RFT<\/jats:styled-content>\n                        1\n                      <\/jats:italic>\n                      gene in patient 2, and the\n                      <jats:italic>\n                        <jats:styled-content style=\"fixed-case\">ALG<\/jats:styled-content>\n                        1\n                      <\/jats:italic>\n                      gene in patient 4. At last follow\u2010up, patients 1 and 2 were 5 and 3\n                      <jats:sup>1\/2<\/jats:sup>\n                      years old. Patients 3 and 4 had died due to respiratory failure during pneumonia and refractory status epilepticus respectively.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>\n                      Children with migrating partial seizures and concomitant multisystem involvement should be investigated for\n                      <jats:styled-content style=\"fixed-case\">CDG<\/jats:styled-content>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/dmcn.13141","type":"journal-article","created":{"date-parts":[[2016,5,13]],"date-time":"2016-05-13T05:17:29Z","timestamp":1463116649000},"page":"1085-1091","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":44,"title":["Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy"],"prefix":"10.1111","volume":"58","author":[{"given":"Carmen","family":"Barba","sequence":"first","affiliation":[{"name":"Pediatric Neurology Unit and Laboratories A. Meyer Children's Hospital \u2013 University of Florence Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Darra","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry University\u2010Hospital of Verona Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaella","family":"Cusmai","sequence":"additional","affiliation":[{"name":"Neurology Unit Bambino Ges\u00f9 Children's Hospital Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Procopio","sequence":"additional","affiliation":[{"name":"Metabolic Unit A. Meyer Children's Hospital \u2013 University of Florence Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Dionisi Vici","sequence":"additional","affiliation":[{"name":"Metabolic Unit Bambino Ges\u00f9 Children's Hospital Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liesbeth","family":"Keldermans","sequence":"additional","affiliation":[{"name":"Centrum Menselijke Erfelijkheid UZ Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandrine","family":"Vuillaumier\u2010Barrot","sequence":"additional","affiliation":[{"name":"Biochemistry and Genetic Laboratory AP\u2010HP Bichat Hospital Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dirk J","family":"Lefeber","sequence":"additional","affiliation":[{"name":"Department of Neurology Translational Metabolic Laboratory Radboud University Medical Center Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renzo","family":"Guerrini","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit and Laboratories A. 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