{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T05:12:36Z","timestamp":1791349956170,"version":"4.3.1"},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2009,9,24]],"date-time":"2009-09-24T00:00:00Z","timestamp":1253750400000},"content-version":"vor","delay-in-days":54,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2009,8]]},"abstract":"<jats:p>\n                    Neonatal epileptic encephalopathies with suppression bursts (SBs) are very severe and relatively rare diseases characterized by neonatal onset of seizures, interictal electroencephalogram (EEG) with SB pattern and very poor neurological outcome or death. Their etiology remains elusive but they are occasionally caused by metabolic diseases or malformations. Studying an Arab Muslim Israeli consanguineous family, with four affected children presenting a severe neonatal epileptic encephalopathy, we have previously identified a mutation in the\n                    <jats:italic>SLC25A22<\/jats:italic>\n                    gene encoding a mitochondrial glutamate transporter. In this report, we describe a novel\n                    <jats:italic>SLC25A22<\/jats:italic>\n                    mutation in an unrelated patient born from first cousin Algerian parents and presenting severe epileptic encephalopathy characterized by an EEG with SB, hypotonia, microcephaly and abnormal electroretinogram. We showed that this patient carried a homozygous p.G236W SLC25A22 mutation which alters a highly conserved amino acid and completely abolishes the glutamate carrier's activity\n                    <jats:italic>in vitro<\/jats:italic>\n                    . Comparison of the clinical features of patients from both families suggests that\n                    <jats:italic>SLC25A22<\/jats:italic>\n                    mutations are responsible for a novel clinically recognizable epileptic encephalopathy with SB.\n                  <\/jats:p>","DOI":"10.1111\/j.1399-0004.2009.01236.x","type":"journal-article","created":{"date-parts":[[2009,9,24]],"date-time":"2009-09-24T09:10:25Z","timestamp":1253783425000},"page":"188-194","source":"Crossref","is-referenced-by-count":119,"title":["Mutations in the mitochondrial glutamate carrier\n                    <i>SLC25A22<\/i>\n                    in neonatal epileptic encephalopathy with suppression bursts"],"prefix":"10.1111","volume":"76","author":[{"given":"F","family":"Molinari","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Kaminska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Fiermonte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Boddaert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Raas\u2010Rothschild","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Plouin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Palmieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Brunelle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Palmieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O","family":"Dulac","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Colleaux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,9,24]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1993.tb00439.x"},{"issue":"3","key":"e_1_2_6_3_2","first-page":"3S9","article-title":"Infantile epileptic syndromes and metabolic etiologies","volume":"17","author":"Vigevano F","year":"2002","journal-title":"J Child Neurol"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0b013e3282f7007e"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2005.11.021"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2005.11.022"},{"key":"e_1_2_6_7_2","first-page":"270","article-title":"On the specific age\u2010dependent epileptic syndromes: the early\u2010infantile epileptic encephalopathy with suppression\u2010burst","volume":"8","author":"Ohtahara S","year":"1976","journal-title":"No To Hattatsu"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(84)80094-7"},{"key":"e_1_2_6_9_2","unstructured":"OhtaharaS OhtsukaY YamatogiY OkaE InoueH.L\u2019enc\u00e9phalopathie \u00e9pileptique infantile pr\u00e9coce avec \u2018suppression\u2010burst'. In: Les syndromes \u00e9pileptiques de l\u2019enfant et de l\u2019adolescentRogerJ BureauM DravetC DreifussFE PerretA WolfP eds.2nd edn.John Libbey & Company Ltd London1992: 25\u201334."},{"key":"e_1_2_6_10_2","first-page":"301","article-title":"Prognosis in childhood epilepsy: a prospective follow\u2010up study","volume":"31","author":"Ohtahara S","year":"1977","journal-title":"Folia Psychiatr Neurol Jpn"},{"key":"e_1_2_6_11_2","first-page":"321","article-title":"Age\u2010dependent epileptic encephalopathy: a longitudinal study","volume":"35","author":"Yamatogi Y","year":"1981","journal-title":"Folia Psychiatr Neurol Jpn"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(01)00392-8"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1086\/518903"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.150"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1086\/427564"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M201572200"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/0378-1119(89)90358-2"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1042\/bj2940293"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/0076-6879(95)60150-3"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.35.22782"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbabio.2008.03.008"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-662-12909-8"},{"key":"e_1_2_6_23_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.2006.04349.x"},{"key":"e_1_2_6_24_2","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.21500"},{"key":"e_1_2_6_25_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2006.00839.x"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2009.01236.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2009.01236.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,28]],"date-time":"2023-09-28T13:57:54Z","timestamp":1695909474000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2009.01236.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,8]]},"references-count":24,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2009,8]]}},"alternative-id":["10.1111\/j.1399-0004.2009.01236.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2009.01236.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,8]]}}}