{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T15:29:00Z","timestamp":1787239740875,"version":"build-2736575974"},"reference-count":35,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2021,1,7]],"date-time":"2021-01-07T00:00:00Z","timestamp":1609977600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["1091593"],"award-info":[{"award-number":["1091593"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Asparagine\u2010linked glycosylation 13 (\n                      <jats:italic>ALG13<\/jats:italic>\n                      ) deficiencies have been repeatedly described in the literature with the clinical phenotype of a developmental and epileptic encephalopathy (DEE). Most cases were females carrying the recurrent\n                      <jats:italic>ALG13<\/jats:italic>\n                      de novo variant, p.(Asn107Ser), with normal transferrin electrophoresis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We delineate the phenotypic spectrum of 38 individuals, 37 girls and one boy, 16 of them novel and 22 published, with the most common pathogenic\n                      <jats:italic>ALG13<\/jats:italic>\n                      variant p.(Asn107Ser) and additionally report the phenotype of three individuals carrying other likely pathogenic\n                      <jats:italic>ALG13<\/jats:italic>\n                      variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The phenotypic spectrum often comprised pharmacoresistant epilepsy with epileptic spasms, mostly with onset within the first 6\u00a0months of life and with spasm persistence in one\u2010half of the cases. Tonic seizures were the most prevalent additional seizure type. Electroencephalography showed hypsarrhythmia and at a later stage of the disease in one\u2010third of all cases paroxysms of fast activity with electrodecrement.\n                      <jats:italic>ALG13<\/jats:italic>\n                      \u2010related DEE was usually associated with severe to profound developmental delay; ambulation was acquired by one\u2010third of the cases, whereas purposeful hand use was sparse or completely absent. Hand stereotypies and dyskinetic movements including dystonia or choreoathetosis were relatively frequent. Verbal communication skills were absent or poor, and eye contact and pursuit were often impaired.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Significance<\/jats:title>\n                    <jats:p>\n                      X\u2010linked\n                      <jats:italic>ALG13<\/jats:italic>\n                      \u2010related DEE usually manifests as West syndrome with severe to profound developmental delay. It is predominantly caused by the recurrent de novo missense variant p.(Asn107Ser). Comprehensive functional studies will be able to prove or disprove an association with congenital disorder of glycosylation.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/epi.16761","type":"journal-article","created":{"date-parts":[[2021,1,10]],"date-time":"2021-01-10T13:49:06Z","timestamp":1610286546000},"page":"325-334","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["The phenotypic spectrum of X\u2010linked, infantile onset\n                    <i>ALG13<\/i>\n                    \u2010related developmental and epileptic encephalopathy"],"prefix":"10.1111","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2218-8484","authenticated-orcid":false,"given":"Alexandre N.","family":"Datta","sequence":"first","affiliation":[{"name":"Pediatric Neurology and Developmental Medicine Department University Children's Hospital University of Basel Basel Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Bahi\u2010Buisson","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Necker\u2013Enfants Malades Children's Hospital Paris and Institute IMAGINE INSERM U1163 University of Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Bienvenu","sequence":"additional","affiliation":[{"name":"Paris Institute of Psychiatry and Neuroscience University of Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah E.","family":"Buerki","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department University Children's Hospital Z\u00fcrich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiona","family":"Gardiner","sequence":"additional","affiliation":[{"name":"Austin Health University of Melbourne Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. Helen","family":"Cross","sequence":"additional","affiliation":[{"name":"Clinical Neuroscience University College London\u2013Great Ormond Street Institute of Child Health London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9n\u00e9dicte","family":"Heron","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department Armand Trousseau\u2013La Roche Guyon University Hospital APHP and GRC No. 19 Sorbonne Universities Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3805-6651","authenticated-orcid":false,"given":"Anna","family":"Kaminska","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurophysiology Necker\u2013Enfants Malades Hospital Public Hospital Network of Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian M.","family":"Korff","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit Department of 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Department of Pediatrics University of Washington Seattle WA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cyrill","family":"Mignot","sequence":"additional","affiliation":[{"name":"Department of Genetics and Reference Center for Intellectual Deficiencies of Rare Causes , Sorbonne University Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthieu","family":"Milh","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit Department of Pediatrics Geneva University Hospital Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Am\u00e9lie","family":"Piton","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics University Hospital Strasbourg Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2905-6839","authenticated-orcid":false,"given":"Ronit 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