{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T05:39:11Z","timestamp":1782970751573,"version":"3.54.5"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2024,10,29]],"date-time":"2024-10-29T00:00:00Z","timestamp":1730160000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,10,29]],"date-time":"2024-10-29T00:00:00Z","timestamp":1730160000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurol Sci"],"published-print":{"date-parts":[[2025,2]]},"DOI":"10.1007\/s10072-024-07824-x","type":"journal-article","created":{"date-parts":[[2024,10,29]],"date-time":"2024-10-29T13:03:00Z","timestamp":1730206980000},"page":"999-1007","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["An overview of genetic mutations in Aicardi-Gouti\u00e8res syndrome in Iranian population"],"prefix":"10.1007","volume":"46","author":[{"given":"Sheyda","family":"Khalilian","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohadeseh","family":"Fathi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad","family":"Miryounesi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0223-499X","authenticated-orcid":false,"given":"Soudeh","family":"Ghafouri-Fard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,10,29]]},"reference":[{"issue":"3","key":"7824_CR1","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1055\/s-2008-1071333","volume":"23","author":"CG B\u00f6nnemann","year":"1992","unstructured":"B\u00f6nnemann CG, Meinecke P (1992) Encephalopathy of infancy with intracerebral calcification and chronic spinal fluid lymphocytosis\u2013another case of the Aicardi-Gouti\u00e8res syndrome. Neuropediatrics 23(3):157\u2013161","journal-title":"Neuropediatrics"},{"issue":"11","key":"7824_CR2","doi-asserted-by":"publisher","first-page":"881","DOI":"10.1136\/jmg.32.11.881","volume":"32","author":"JL Tolmie","year":"1995","unstructured":"Tolmie JL, Shillito P, Hughes-Benzie R, Stephenson JB (1995) The Aicardi-Gouti\u00e8res syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis). J Med Genet 32(11):881\u2013884","journal-title":"J Med Genet"},{"issue":"10","key":"7824_CR3","doi-asserted-by":"publisher","first-page":"708","DOI":"10.1136\/jmg.28.10.708","volume":"28","author":"CG B\u00f6nnemann","year":"1991","unstructured":"B\u00f6nnemann CG, Meinecke P, Reich H (1991) Encephalopathy with intracerebral calcification, white matter lesions, growth hormone deficiency, microcephaly, and retinal degeneration: two sibs confirming a probably distinct entity. J Med Genet 28(10):708\u2013711","journal-title":"J Med Genet"},{"issue":"1","key":"7824_CR4","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1002\/ajmg.1320520112","volume":"52","author":"W Reardon","year":"1994","unstructured":"Reardon W, Hockey A, Silberstein P, Kendall B, Farag TI, Swash M et al (1994) Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease. Am J Med Genet 52(1):58\u201365","journal-title":"Am J Med Genet"},{"key":"7824_CR5","first-page":"SP71","volume":"44","author":"Y Crow","year":"2007","unstructured":"Crow Y (2007) Aicardi Goutieres syndrome. J Med Genet 44:SP71","journal-title":"J Med Genet"},{"issue":"4","key":"7824_CR6","doi-asserted-by":"publisher","first-page":"e13314","DOI":"10.1111\/sji.13314","volume":"98","author":"A Liu","year":"2023","unstructured":"Liu A, Ying S (2023) Aicardi\u2013Gouti\u00e8res syndrome: a monogenic type I interferonopathy. Scand J Immunol 98(4):e13314","journal-title":"Scand J Immunol"},{"issue":"8","key":"7824_CR7","doi-asserted-by":"publisher","first-page":"917","DOI":"10.1038\/ng1845","volume":"38","author":"YJ Crow","year":"2006","unstructured":"Crow YJ, Hayward BE, Parmar R, Robins P, Leitch A, Ali M et al (2006) Mutations in the gene encoding the 3\u2032-5\u2032 DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus. Nat Genet 38(8):917\u2013920","journal-title":"Nat Genet"},{"issue":"8","key":"7824_CR8","doi-asserted-by":"publisher","first-page":"910","DOI":"10.1038\/ng1842","volume":"38","author":"YJ Crow","year":"2006","unstructured":"Crow YJ, Leitch A, Hayward BE, Garner A, Parmar R, Griffith E et al (2006) Mutations in genes encoding Ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection. Nat Genet 38(8):910\u2013916","journal-title":"Nat Genet"},{"issue":"7","key":"7824_CR9","doi-asserted-by":"publisher","first-page":"829","DOI":"10.1038\/ng.373","volume":"41","author":"GI Rice","year":"2009","unstructured":"Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM et al (2009) Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet 41(7):829\u2013832","journal-title":"Nat Genet"},{"issue":"11","key":"7824_CR10","doi-asserted-by":"publisher","first-page":"1243","DOI":"10.1038\/ng.2414","volume":"44","author":"GI Rice","year":"2012","unstructured":"Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M et al (2012) Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature. Nat Genet 44(11):1243\u20131248","journal-title":"Nat Genet"},{"issue":"5","key":"7824_CR11","doi-asserted-by":"publisher","first-page":"503","DOI":"10.1038\/ng.2933","volume":"46","author":"GI Rice","year":"2014","unstructured":"Rice GI, del Toro Duany Y, Jenkinson EM, Forte GM, Anderson BH, Ariaudo G et al (2014) Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nat Genet 46(5):503\u2013509","journal-title":"Nat Genet"},{"issue":"12","key":"7824_CR12","doi-asserted-by":"publisher","first-page":"1364","DOI":"10.1038\/s41588-020-00737-3","volume":"52","author":"C Uggenti","year":"2020","unstructured":"Uggenti C, Lepelley A, Depp M, Badrock AP, Rodero MP, El-Daher M-T et al (2020) cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing. Nat Genet 52(12):1364\u20131372","journal-title":"Nat Genet"},{"issue":"4","key":"7824_CR13","first-page":"145","volume":"8","author":"MM Vakilzadeh","year":"2021","unstructured":"Vakilzadeh MM, Ahangari N, Karimiani EG, Toosi MB (2021) Misdiagnosed Aicardi Gouti\u00e8res Syndrome Patient: A Case Report. Reviews Clin Med 8(4)","journal-title":"Reviews Clin Med"},{"issue":"2","key":"7824_CR14","first-page":"87","volume":"6","author":"M Farhangfar","year":"2018","unstructured":"Farhangfar M, Rezazadeh Varaghchi J (2018) P56: a Case Report on a New Aicardi-Goutieres Syndrome Inducing Gene. Neurosci J Shefaye Khatam 6(2):87","journal-title":"Neurosci J Shefaye Khatam"},{"issue":"2","key":"7824_CR15","doi-asserted-by":"publisher","first-page":"296","DOI":"10.1002\/ajmg.a.36887","volume":"167A","author":"YJ Crow","year":"2015","unstructured":"Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL et al (2015) Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. American journal of medical genetics part A 167A(2):296\u2013312","journal-title":"American journal of medical genetics part A"},{"issue":"4","key":"7824_CR16","doi-asserted-by":"publisher","first-page":"713","DOI":"10.1086\/521373","volume":"81","author":"G Rice","year":"2007","unstructured":"Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J et al (2007) Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet 81(4):713\u2013725","journal-title":"Am J Hum Genet"},{"issue":"1","key":"7824_CR17","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1016\/j.ejpn.2013.07.005","volume":"18","author":"G Ramantani","year":"2014","unstructured":"Ramantani G, Maillard LG, Bast T, Husain RA, Niggemann P, Kohlhase J et al (2014) Epilepsy in Aicardi-Gouti\u00e8res syndrome. Eur J Pediatr Neurology: EJPN\u202f: Official J Eur Pediatr Neurol Soc 18(1):30\u201337","journal-title":"Eur J Pediatr Neurology: EJPN : Official J Eur Pediatr Neurol Soc"},{"issue":"3","key":"7824_CR18","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1002\/ajmg.a.30250","volume":"129A","author":"YJ Crow","year":"2004","unstructured":"Crow YJ, Massey RF, Innes JR, Pairaudeau PW, Rowland Hill CA, Woods CG et al (2004) Congenital glaucoma and brain stem atrophy as features of Aicardi-Gouti\u00e8res syndrome. Am J Med Genet Part A 129A(3):303\u2013307","journal-title":"Am J Med Genet Part A"}],"container-title":["Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-024-07824-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10072-024-07824-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-024-07824-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,27]],"date-time":"2025-01-27T09:13:23Z","timestamp":1737969203000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10072-024-07824-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,29]]},"references-count":18,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,2]]}},"alternative-id":["7824"],"URL":"https:\/\/doi.org\/10.1007\/s10072-024-07824-x","relation":{},"ISSN":["1590-1874","1590-3478"],"issn-type":[{"value":"1590-1874","type":"print"},{"value":"1590-3478","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,10,29]]},"assertion":[{"value":"5 May 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 October 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 October 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The study was carried out according to the principles of the 1964 Declaration of Helsinki. Parents of each enrolled subject provided a written informed consent, and all study data were obtained and elaborated in accordance with our institutional ethical committee regulations.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Research involving human participants and\/or animals"}},{"value":"Informed consent was obtained from parents of patients.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}},{"value":"Authors declare no conflicts of interests.","order":6,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}