{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T23:44:47Z","timestamp":1778629487671,"version":"3.51.4"},"reference-count":36,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,4,19]],"date-time":"2017-04-19T00:00:00Z","timestamp":1492560000000},"content-version":"vor","delay-in-days":49,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>Aim<\/jats:italic>. Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by impaired glycosylation. Multisystemic involvement is common and neurological impairment is notably severe and disabling, concerning the central and peripheral nervous system. Epilepsy is frequent, but detailed electroclinical description is rare.<\/jats:p><jats:p><jats:italic>Methods<\/jats:italic>. We describe, retrospectively, the electroclinical features in five children with CDG and epileptic spasms.<\/jats:p><jats:p><jats:italic>Results<\/jats:italic>. Epileptic spasms were observed in patients with ALG1\u2010, ALG6, ALG11\u2010CDG and CDG\u2010Ix, and occurred at an early age, before 6 months in all cases, except one who had spasms that started at 18 months. In this patient, spasms had an unusual aspect; they did not occur in clusters and were immediately preceded by a myoclonus. All but one child also presented rare myoclonias. On EEG, background activity was poorly organized with abundant posterior spike and fast rhythm activity, but without hypsarrhythmia. At the last evaluation (age range: 6\u201312 years), two patients still presented epileptic spasms and subcortical myoclonias, one showed rare generalized tonic\u2010clonic seizures, and two were seizure\u2010free.<\/jats:p><jats:p><jats:italic>Conclusion<\/jats:italic>. CDG disorders can be associated with epileptic spasms showing particular features, such as absence of hypsarrhythmia, posterior EEG anomalies, and an unusual combination of epileptic spasms with myoclonus. These features, associated with pre\u2010existing developmental delay and subcortical myoclonias, may shift toward CDG screening. [<jats:italic>Published with video sequence and supplemental EEG plates on<\/jats:italic> <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/www.epilepticdisorders.com\">www.epilepticdisorders.com<\/jats:ext-link>]<\/jats:p>","DOI":"10.1684\/epd.2017.0901","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:29Z","timestamp":1564752269000},"page":"15-23","source":"Crossref","is-referenced-by-count":17,"title":["Epileptic spasms in congenital disorders of glycosylation"],"prefix":"10.1002","volume":"19","author":[{"given":"Andreia G.","family":"Pereira","sequence":"first","affiliation":[{"name":"Pediatric Neurology Service, Dona Estef\u00e2nia Hospital Centro Hospitalar Lisboa Central EPE Lisbon Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadia","family":"Bahi\u2010Buisson","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Necker Enfants Malades 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