{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T16:58:26Z","timestamp":1778864306695,"version":"3.51.4"},"reference-count":11,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2014,9,22]],"date-time":"2014-09-22T00:00:00Z","timestamp":1411344000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2015,3]]},"abstract":"<jats:p>Aicardi-Gouti\u00e8res syndrome is a genetic neurodegenerative disorder with clinical symptoms mimicking a congenital viral infection. Mutations in 6 genes are known to cause the disease: 3 prime repair exonuclease1, ribonucleases H2A, B, and C, SAM domain and HD domain 1, and most recently ADAR1. HD domain 1 mutations were previously reported in the Ashkenazi-Jewish community. We report an additional patient of Ashkenazi-Jewish descent and review the other 3 cases affected with Aicardi-Gouti\u00e8res syndrome due to SAM domain and HD domain 1 ( SAMHD1) mutations described in Israel. We propose that there may be a phenotypic-genotypic correlation in accordance with the type of mutations inherited in the SAMHD1 genotype and suggest that Aicardi-Gouti\u00e8res syndrome may not be a rare disease in the Ashkenazi-Jewish population.<\/jats:p>","DOI":"10.1177\/0883073814549241","type":"journal-article","created":{"date-parts":[[2014,9,23]],"date-time":"2014-09-23T03:23:55Z","timestamp":1411442635000},"page":"490-495","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["A Possible Genotype-Phenotype Correlation in Ashkenazi-Jewish Individuals With Aicardi-Gouti\u00e8res Syndrome Associated With\n                    <i>SAMHD1<\/i>\n                    Mutation"],"prefix":"10.1177","volume":"30","author":[{"given":"Rachel","family":"Straussberg","sequence":"first","affiliation":[{"name":"Neurogenetic Clinic, Department of Child Neurology, Schneider Children\u2019s Medical Center of Israel, Petach Tikvah, Israel"},{"name":"Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daphna","family":"Marom","sequence":"additional","affiliation":[{"name":"Neurogenetic Clinic, Department of Child Neurology, Schneider Children\u2019s Medical Center of Israel, Petach Tikvah, Israel"},{"name":"Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikvah, Israel"},{"name":"Pediatrics A, Schneider Children's Medical Center of Israel, Petach Tikva, Israel"},{"name":"Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esther","family":"Sanado-Inbar","sequence":"additional","affiliation":[{"name":"Neurogenetic Clinic, Department of Child Neurology, Schneider Children\u2019s Medical Center of Israel, Petach Tikvah, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yaniv","family":"Lakovsky","sequence":"additional","affiliation":[{"name":"Neurogenetic Clinic, Department of Child Neurology, Schneider Children\u2019s Medical Center of Israel, Petach Tikvah, Israel"},{"name":"Department of Radiology, Schneider Children\u2019s Medical Center of Israel, Petach Tikvah, Israel"},{"name":"Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gadi","family":"Horev","sequence":"additional","affiliation":[{"name":"Neurogenetic Clinic, Department of Child Neurology, Schneider Children\u2019s Medical Center of Israel, Petach Tikvah, Israel"},{"name":"Department of Radiology, Schneider Children\u2019s Medical Center of Israel, Petach Tikvah, Israel"},{"name":"Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stavit A.","family":"Shalev","sequence":"additional","affiliation":[{"name":"Neurogenetic Clinic, Department of Child Neurology, Schneider Children\u2019s Medical Center of Israel, Petach Tikvah, Israel"},{"name":"The Genetics Institute, Ha\u2019emek Medical Center, Afula and the Rappaport Faculty of Medicine, Technion, Haifa, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorit","family":"Lev","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel"},{"name":"Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tally","family":"Lerman-Sagie","sequence":"additional","affiliation":[{"name":"Neurogenetic Clinic, Department of Child Neurology, Schneider Children\u2019s Medical Center of Israel, Petach Tikvah, Israel"},{"name":"Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel"},{"name":"Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esther","family":"Leshinsky-Silver","sequence":"additional","affiliation":[{"name":"Neurogenetic Clinic, Department of Child Neurology, Schneider Children\u2019s Medical Center of Israel, Petach Tikvah, Israel"},{"name":"Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel"},{"name":"Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2014,9,22]]},"reference":[{"key":"bibr1-0883073814549241","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2008.02062.x"},{"key":"bibr2-0883073814549241","doi-asserted-by":"publisher","DOI":"10.1111\/cei.12115"},{"key":"bibr3-0883073814549241","doi-asserted-by":"publisher","DOI":"10.1038\/ng.373"},{"key":"bibr4-0883073814549241","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1014265108"},{"key":"bibr5-0883073814549241","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.213"},{"key":"bibr6-0883073814549241","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2010.03727.x"},{"key":"bibr7-0883073814549241","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2414"},{"key":"bibr8-0883073814549241","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1104699108"},{"key":"bibr9-0883073814549241","author":"Jalas 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