{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T07:07:02Z","timestamp":1773904022165,"version":"3.50.1"},"reference-count":4,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,3,27]],"date-time":"2019-03-27T00:00:00Z","timestamp":1553644800000},"content-version":"vor","delay-in-days":54,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2019,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Berardinelli\u2010Seip syndrome, or congenital generalized lipodystrophy type 2 (CGL2), is characterized by a lack of subcutaneous adipose tissue and precocious metabolic syndrome with insulin resistance, resulting in diabetes, dyslipidaemia, hepatic steatosis, cardiomyopathy, and acanthosis nigricans. Most reported mutations are associated with mild, non\u2010progressive neurological impairment. We describe the clinical and EEG data of a patient with progressive myoclonus epilepsy (PME), CGL2, and progressive neurological impairment, carrying a homozygous <jats:italic>BSCL2<\/jats:italic> nonsense mutation. The patient had epilepsy onset at the age of two, characterized by monthly generalized tonic\u2010clonic seizures. By the age of three, he presented with drug\u2010resistant ongoing myoclonic absence seizures, photosensitivity, progressive neurological degeneration, and moderate cognitive delay. Molecular analysis of the <jats:italic>BSCL2<\/jats:italic> gene yielded a homozygous c.(1076dupC) p.(Glu360*) mutation. Application of a vagus nerve stimulator led to temporary improvement in seizure frequency, general neurological condition, and EEG background activity. Specific <jats:italic>BSCL2<\/jats:italic> mutations may lead to a peculiar CGL2 phenotype characterized by PME and progressive neurodegeneration. Application of a vagus nerve stimulator, rarely used for PMEs, may prove beneficial, if only temporarily, for both seizure frequency and general neurological condition.<\/jats:p>","DOI":"10.1684\/epd.2019.1038","type":"journal-article","created":{"date-parts":[[2024,1,23]],"date-time":"2024-01-23T16:29:53Z","timestamp":1706027393000},"page":"117-121","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Berardinelli\u2010Seip syndrome and progressive myoclonus epilepsy"],"prefix":"10.1002","volume":"21","author":[{"given":"Domenico","family":"Serino","sequence":"first","affiliation":[{"name":"Child Neurology and Psychiatry Unit \u201cRegina Montis Regalis\u201d Hospital Mondov\u00ec"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Davico","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit \u201cRegina Margherita\u201d Pediatric Hospital Turin"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicola","family":"Specchio","sequence":"additional","affiliation":[{"name":"Child Neurology Unit \u201cBambino Ges\u00f9\u201d Pediatric Hospital Rome"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlo Efisio","family":"Marras","sequence":"additional","affiliation":[{"name":"Child Neurosurgery Unit \u201cBambino Ges\u00f9\u201d Pediatric Hospital Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franco","family":"Fioretto","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit \u201cRegina Montis Regalis\u201d Hospital Mondov\u00ec"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,3,27]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2016.08.008"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-101525"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1607-551X(09)70572-8"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2015.08.006"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2019.1038","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:06:04Z","timestamp":1710777964000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2019.1038"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,2]]},"references-count":4,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,2]]}},"alternative-id":["10.1684\/epd.2019.1038"],"URL":"https:\/\/doi.org\/10.1684\/epd.2019.1038","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,2]]},"assertion":[{"value":"2018-08-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-12-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-03-27","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}