{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,21]],"date-time":"2025-09-21T17:36:34Z","timestamp":1758476194882},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2009,3,1]],"date-time":"2009-03-01T00:00:00Z","timestamp":1235865600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2009,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>We present the clinical course and EEG evolution of an extreme low birth weight preterm neonate with an uncommon type of glycine encephalopathy. The patient presented with myoclonic jerks, apnea and encephalopathy three months after birth without satisfactory therapeutic response. During the first days of clinical symptoms the patient presented a paroxystic burst\u2010attenuation EEG pattern which progressively evolved into an established typical burst\u2010suppression pattern within a few days. West syndrome occurred four weeks later and the patient died at seven months of extra\u2010uterine life due to a serious respiratory infection with cardio\u2010respiratory arrest. Genetic analysis showed a nonpreviously described mutation affecting a consensus splice site (IVS2\u20101G &gt; C 3) in the AMT gene encoding the T protein of the glycine cleavage system.<\/jats:p>","DOI":"10.1684\/epd.2009.0249","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:19Z","timestamp":1564752259000},"page":"48-53","source":"Crossref","is-referenced-by-count":6,"title":["Atypical glycine encephalopathy in an extremely low birth weight infant: description of a new mutation and clinical and electroencephalographic analysis"],"prefix":"10.1002","volume":"11","author":[{"given":"Jos\u00e9 Manuel","family":"Pardal\u2010Fern\u00e1ndez","sequence":"first","affiliation":[{"name":"Departments of Clinical Neurophysiology Paediatrics and Research University General Hospital Albacete Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Carmen","family":"Carrascosa\u2010Romero","sequence":"additional","affiliation":[{"name":"Departments of Clinical Neurophysiology Paediatrics and Research University General Hospital Albacete Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos de Cabo\u2010de la","family":"Vega","sequence":"additional","affiliation":[{"name":"Departments of Clinical Neurophysiology Paediatrics and Research University General Hospital Albacete Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivan","family":"Iniesta\u2010L\u00f3pez","sequence":"additional","affiliation":[{"name":"Department of Neurology The Walton Centre for Neurology and Neurosurgery Liverpool England"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esther","family":"Gil\u2010Pons","sequence":"additional","affiliation":[{"name":"Departments of Clinical Neurophysiology Paediatrics and Research University General Hospital Albacete Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9s","family":"Mart\u00ednez\u2010Guti\u00e9rrez","sequence":"additional","affiliation":[{"name":"Departments of Clinical Neurophysiology Paediatrics and Research University General Hospital Albacete Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,3]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00238666"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm1301"},{"key":"e_1_2_5_4_1","first-page":"159","article-title":"The neurochemistry of epilepsy, inhibitory neurotransmission and experimental models: new perspectives","volume":"42","author":"De Cabo\u2010de la Vega C","year":"2006","journal-title":"Rev Neurol"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.07.016"},{"key":"e_1_2_5_6_1","first-page":"2065","volume-title":"The Metabolic & Molecular Bases of Inherited Disease","author":"Hamosh A","year":"2001"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/325529a0"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01659328"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20293"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1991.tb07779.x"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00201565"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1991.tb02596.x"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(03)00056-4"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1535-7511.2006.00119.x"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2009.0249","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:16:54Z","timestamp":1710778614000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2009.0249"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,3]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2009,3]]}},"alternative-id":["10.1684\/epd.2009.0249"],"URL":"https:\/\/doi.org\/10.1684\/epd.2009.0249","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,3]]}}}