{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T14:04:40Z","timestamp":1790085880726,"version":"4.0.1"},"reference-count":0,"publisher":"Ideggyogyaszati Szemle Journal","issue":"9-10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ideggy\u00f3gy\u00e1szati szemle"],"published-print":{"date-parts":[[2026]]},"abstract":"<jats:p>A FOXG1-szindr\u00f3ma, m\u00e1s n\u00e9ven congenitalis Rett-szindr\u00f3ma, autoszom\u00e1lis domin\u00e1ns \u00f6r\u00f6kl\u0151d\u00e9s\u0171 neurodevelopment\u00e1lis rendelleness\u00e9g, amelyre a korai kezdet\u0171 fejl\u0151d\u00e9si k\u00e9s\u00e9s, a microcephalia, a mozg\u00e1szavarok \u00e9s az epilepszia jellemz\u0151. Egy olyan fi\u00fa \u00fajsz\u00fcl\u00f6tt eset\u00e9t ismertetj\u00fck, akin\u00e9l sz\u00fclet\u00e9skor hypotonia \u00e9s k\u00f3ros l\u00e9gz\u00e9si aktivit\u00e1s jelentkezett. A nem specifikus, ugyanakkor s\u00falyos klinikai t\u00fcnetek miatt az \u00fajsz\u00fcl\u00f6ttn\u00e9l tri\u00f3 teljes exomszekven\u00e1l\u00e1st (WES) v\u00e9geztek. A tri\u00f3-WES egy de novo, heterozig\u00f3ta frameshift mut\u00e1ci\u00f3t azonos\u00edtott a FOXG1 g\u00e9nben (c.459_460delGG; p.Glu154Glyfs). Az intenz\u00edv kezel\u00e9s ellen\u00e9re az \u00fajsz\u00fcl\u00f6tt a sz\u00fclet\u00e9st k\u00f6vet\u0151 24 \u00f3r\u00e1n bel\u00fcl meghalt. Az eset r\u00e1vil\u00e1g\u00edt arra, hogy s\u00falyos \u00e1llapot\u00fa \u00fajsz\u00fcl\u00f6ttek eset\u00e9ben a tri\u00f3-WES r\u00e9v\u00e9n gyorsan fel\u00e1ll\u00edthat\u00f3 a pontos diagn\u00f3zis, amennyiben siker\u00fcl azonos\u00edtani a FOXG1-szindr\u00f3m\u00e1val \u00f6sszef\u00fcgg\u0151, de novo patog\u00e9n vari\u00e1nst. Az egy\u00e9b m\u00f3don nem magyar\u00e1zhat\u00f3 etiol\u00f3gi\u00e1j\u00fa, s\u00falyos neonatalis encephalopathia eset\u00e9n a korai genetikai diagn\u00f3zis kiemelt jelent\u0151s\u00e9g\u0171 a beteg kezel\u00e9s\u00e9nek \u00e9s progn\u00f3zis\u00e1nak meghat\u00e1roz\u00e1sa, valamint \u2013 ami k\u00fcl\u00f6n\u00f6sen fontos \u2013 a sz\u00fcl\u0151k genetikai tan\u00e1csad\u00e1sa szempontj\u00e1b\u00f3l.<\/jats:p>","DOI":"10.18071\/isz.79.0351","type":"journal-article","created":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T13:33:12Z","timestamp":1790083992000},"page":"351-355","source":"Crossref","is-referenced-by-count":0,"title":["FOXG1-szindr\u00f3ma: a genetikai h\u00e1tt\u00e9r felt\u00e1r\u00e1sa tri\u00f3 teljes exomszekven\u00e1l\u00e1ssal egy kritikus \u00e1llapot\u00fa \u00fajszu\u0308l\u00f6tt eset\u00e9ben"],"prefix":"10.18071","volume":"79","author":[{"given":"Behich","family":"Koyutourk","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dize","family":"Deryali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayla","family":"Turgay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ismet","family":"Zaimagaoglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ceyhun","family":"Dalkan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9593-9325","authenticated-orcid":false,"given":"Mahmut Cerkez","family":"Ergoren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"7411","published-online":{"date-parts":[[2026]]},"container-title":["Ideggy\u00f3gy\u00e1szati szemle"],"original-title":[],"link":[{"URL":"https:\/\/elitmed.hu\/en\/publications\/clinical-neuroscience\/foxg1-syndrome-genetic-background-revealed-by-trio-wes-in-case-of-a-critically-ill-neonate\/pdf-open","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T13:33:12Z","timestamp":1790083992000},"score":1,"resource":{"primary":{"URL":"https:\/\/elitmed.hu\/en\/publications\/clinical-neuroscience\/foxg1-syndrome-genetic-background-revealed-by-trio-wes-in-case-of-a-critically-ill-neonate"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026]]},"references-count":0,"journal-issue":{"issue":"9-10","published-online":{"date-parts":[[2026]]},"published-print":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.18071\/isz.79.0351","relation":{},"ISSN":["0019-1442","2498-6208"],"issn-type":[{"value":"0019-1442","type":"print"},{"value":"2498-6208","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026]]}}}