{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T23:12:53Z","timestamp":1789513973633,"version":"build-2803163510"},"reference-count":24,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2008,9,1]],"date-time":"2008-09-01T00:00:00Z","timestamp":1220227200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["European Journal of Paediatric Neurology"],"published-print":{"date-parts":[[2008,9]]},"DOI":"10.1016\/j.ejpn.2007.11.010","type":"journal-article","created":{"date-parts":[[2008,3,15]],"date-time":"2008-03-15T11:15:18Z","timestamp":1205579718000},"page":"355-358","source":"Crossref","is-referenced-by-count":52,"title":["Aicardi\u2013Gouti\u00e8res syndrome (AGS)"],"prefix":"10.1016","volume":"12","author":[{"given":"John B.P.","family":"Stephenson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejpn.2007.11.010_bib1","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1002\/ana.410150109","article-title":"A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis","volume":"15","author":"Aicardi","year":"1984","journal-title":"Ann Neurol"},{"key":"10.1016\/j.ejpn.2007.11.010_bib2","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/0022-510X(88)90125-6","article-title":"Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy","volume":"84","author":"Lebon","year":"1988","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.ejpn.2007.11.010_bib3","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1055\/s-2008-1071333","article-title":"Encephalopathy of infancy with intracerebral calcification and chronic spinal fluid lymphocytosis\u2014another case of the Aicardi\u2013Gouti\u00e8res syndrome","volume":"23","author":"B\u00f6nnemann","year":"1992","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.ejpn.2007.11.010_bib4","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1136\/jmg.32.11.881","article-title":"The Aicardi\u2013Goutieres syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis)","volume":"32","author":"Tolmie","year":"1995","journal-title":"J Med Genet"},{"key":"10.1016\/j.ejpn.2007.11.010_bib5","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1086\/521373","article-title":"Clinical and molecular phenotype of Aicardi\u2013Gouti\u00e8res syndrome","volume":"81","author":"Rice","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ejpn.2007.11.010_bib6","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1055\/s-2007-973555","article-title":"Aicardi\u2013Gouti\u00e8res syndrome: an expanding phenotype","volume":"29","author":"McEntagart","year":"1998","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.ejpn.2007.11.010_bib7","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1055\/s-2007-973455","article-title":"A distinct difference in clinical expression of two siblings with Aicardi\u2013Gouti\u00e8res syndrome","volume":"30","author":"\u00d8stergaard","year":"1999","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.ejpn.2007.11.010_bib8","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1055\/s-2000-7492","article-title":"Familial systemic lupus erythematosus and congenital infection-like syndrome","volume":"31","author":"Dale","year":"2000","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.ejpn.2007.11.010_bib9","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1055\/s-2000-7533","article-title":"Systemic lupus erythematosus or Aicardi\u2013Gouti\u00e8res syndrome?","volume":"31","author":"Aicardi","year":"2000","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.ejpn.2007.11.010_bib10","doi-asserted-by":"crossref","first-page":"900","DOI":"10.1002\/ana.410440608","article-title":"Aicardi\u2013Gouti\u00e8res syndrome: an update and results of interferon-alpha studies","volume":"44","author":"Gouti\u00e8res","year":"1998","journal-title":"Ann Neurol"},{"issue":"Suppl. A","key":"10.1016\/j.ejpn.2007.11.010_bib11","doi-asserted-by":"crossref","first-page":"A67","DOI":"10.1053\/ejpn.2002.0578","article-title":"Aicardi\u2013Gouti\u00e8res syndrome\u2014observations of the Glasgow school","volume":"6","author":"Stephenson","year":"2002","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.ejpn.2007.11.010_bib12","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1086\/302955","article-title":"Aicardi\u2013Gouti\u00e8res syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21","volume":"67","author":"Crow","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ejpn.2007.11.010_bib13","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1038\/ng1845","article-title":"Mutations in the gene encoding the 3\u2032\u20135\u2032 DNA exonuclease TREX1 cause Aicardi\u2013Gouti\u00e8res syndrome at the AGS1 locus","volume":"38","author":"Crow","year":"2006","journal-title":"Nat Genet"},{"key":"10.1016\/j.ejpn.2007.11.010_bib14","doi-asserted-by":"crossref","first-page":"910","DOI":"10.1038\/ng1842","article-title":"Mutations in genes encoding ribonuclease H2 subunits cause Aicardi\u2013Gouti\u00e8res syndrome and mimic congenital viral brain infection","volume":"38","author":"Crow","year":"2006","journal-title":"Nat Genet"},{"key":"10.1016\/j.ejpn.2007.11.010_bib15","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1002\/ana.410240402","article-title":"Encephalitis among Cree children in northern Quebec","volume":"24","author":"Black","year":"1988","journal-title":"Ann Neurol"},{"key":"10.1016\/j.ejpn.2007.11.010_bib16","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1136\/jmg.40.3.183","article-title":"Cree encephalitis is allelic with Aicardi\u2013Gouti\u00e8res syndrome implications for the pathogenesis of disorders of interferon alpha metabolism","volume":"40","author":"Crow","year":"2003","journal-title":"J Med Genet"},{"key":"10.1016\/j.ejpn.2007.11.010_bib17","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1086\/513443","article-title":"Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi\u2013Gouti\u00e8res syndrome","volume":"80","author":"Rice","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ejpn.2007.11.010_bib18","unstructured":"Crow YJ, Livingston JH. Aicardi\u2013Gouti\u00e8res syndrome: an important mimic of congenital infection. Dev Med Child Neurol, in press."},{"key":"10.1016\/j.ejpn.2007.11.010_bib19","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1002\/ajmg.a.30250","article-title":"Congenital glaucoma and brain stem atrophy as features of Aicardi\u2013Gouti\u00e8res syndrome","volume":"129","author":"Crow","year":"2004","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.ejpn.2007.11.010_bib20","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1212\/01.WNL.0000082726.08631.E7","article-title":"Cerebrospinal fluid pterins and folates in Aicardi\u2013Gouti\u00e8res syndrome: a new phenotype","volume":"61","author":"Blau","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.ejpn.2007.11.010_bib21","doi-asserted-by":"crossref","unstructured":"Orcesi S, Pessagno A, Biancheri R, et al. Aicardi\u2013Gouti\u00e8res syndrome presenting atypically as a sub-acute leukoencephalopathy. Eur J Paediatr Neurol, in press, doi:10.1016\/j.ejpn.2007.10.005.","DOI":"10.1016\/j.ejpn.2007.10.005"},{"issue":"4509","key":"10.1016\/j.ejpn.2007.11.010_bib22","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1126\/science.6166984","article-title":"Human lupus inclusions and interferon","volume":"213","author":"Rich","year":"1981","journal-title":"Science"},{"key":"10.1016\/j.ejpn.2007.11.010_bib23","first-page":"70","article-title":"Endoneurial vasculitis and tubuloreticular inclusions in peripheral nerve biopsy","volume":"19","author":"Midroni","year":"2000","journal-title":"Clin Neuropathol"},{"key":"10.1016\/j.ejpn.2007.11.010_bib24","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1038\/ng0806-866","article-title":"Nucleic acid by-products and chronic inflammation","volume":"38","author":"Alarcon-Riquelme","year":"2006","journal-title":"Nat Genet"}],"container-title":["European Journal of Paediatric Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379807002024?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379807002024?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,5,9]],"date-time":"2019-05-09T00:17:57Z","timestamp":1557361077000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1090379807002024"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,9]]},"references-count":24,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2008,9]]}},"alternative-id":["S1090379807002024"],"URL":"https:\/\/doi.org\/10.1016\/j.ejpn.2007.11.010","relation":{},"ISSN":["1090-3798"],"issn-type":[{"value":"1090-3798","type":"print"}],"subject":[],"published":{"date-parts":[[2008,9]]}}}