{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T06:21:20Z","timestamp":1792131680821,"version":"4.4.0"},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,11,27]],"date-time":"2017-11-27T00:00:00Z","timestamp":1511740800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100006013","name":"United Arab Emirates University","doi-asserted-by":"publisher","award":["31M119"],"award-info":[{"award-number":["31M119"]}],"id":[{"id":"10.13039\/501100006013","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Synaptojanin 1 is encoded by the <jats:italic><jats:styled-content style=\"fixed-case\">SYNJ<\/jats:styled-content>1<\/jats:italic>(<jats:styled-content style=\"fixed-case\">MIM<\/jats:styled-content> 604297) and plays a major role in phosphorylation and recycling of synaptic vesicles. Mutation of <jats:italic><jats:styled-content style=\"fixed-case\">SYNJ<\/jats:styled-content>1<\/jats:italic> is associated with two distinct phenotypes; a known homozygous missense mutation (p.Arg258Gln) associated with early\u2010onset Parkinson disease (<jats:styled-content style=\"fixed-case\">MIM<\/jats:styled-content> 615530), whereas mutation with complete loss of <jats:italic><jats:styled-content style=\"fixed-case\">SYNJ<\/jats:styled-content>1<\/jats:italic> function result in a lethal neurodegenerative disease with intractable seizure and tauopathies (<jats:styled-content style=\"fixed-case\">MIM<\/jats:styled-content> 617389).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report two related children from consanguineous family presented with intractable seizure, profound developmental delay, failure to thrive, acquired microcephaly, and hypotonia. The brain <jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content> is normal and <jats:styled-content style=\"fixed-case\">EEG<\/jats:styled-content> showed hypsarrhythmia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Result<\/jats:title><jats:p>The diagnosis was achieved via whole\u2010genome sequencing which showed homozygous mutation in <jats:italic><jats:styled-content style=\"fixed-case\">SYNJ<\/jats:styled-content>1<\/jats:italic> (c.709C&gt;T, p.Gln237*).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>A clinical pattern of neonatal\u2010onset intractable seizure, profound developmental delay, muscular hypotonia, hypsarrhythmia, and no focal abnormality of brain <jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content> should prompt initiation of molecular genetic analysis of <jats:italic><jats:styled-content style=\"fixed-case\">SYNJ<\/jats:styled-content>1<\/jats:italic>. Establishment of the diagnosis permits genetic counseling, prevents patients undergoing unhelpful diagnostic procedures and allows for accurate prognosis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.341","type":"journal-article","created":{"date-parts":[[2017,11,27]],"date-time":"2017-11-27T23:12:46Z","timestamp":1511824366000},"page":"109-113","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["<i><scp>SYNJ<\/scp>1<\/i> gene associated with neonatal onset of neurodegenerative disorder and intractable seizure"],"prefix":"10.1002","volume":"6","author":[{"given":"Nuha","family":"Al Zaabi","sequence":"first","affiliation":[{"name":"Department of Pediatric College of Medicine and Health Science United Arab Emirates University Al Ain UAE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noora","family":"Al Menhali","sequence":"additional","affiliation":[{"name":"Department of Pediatric Mafraq Hospital Abu Dhabi UAE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0792-9598","authenticated-orcid":false,"given":"Fatma","family":"Al\u2010Jasmi","sequence":"additional","affiliation":[{"name":"Department of Pediatric College of Medicine and Health Science United Arab Emirates University Al Ain UAE"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,11,27]]},"reference":[{"issue":"1","key":"e_1_2_7_2_1","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1159\/000015493","article-title":"Assignment of SYNJ1 to human chromosome 21q22.2 and Synj12 to the murine homologous region on chromosome 16C3\u20104 by in\u00a0situ hybridization","volume":"88","author":"Cremona O.","year":"2000","journal-title":"Cytogenetics and Cell Genetics"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature05185"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1155\/2014\/289728"},{"issue":"2","key":"e_1_2_7_5_1","doi-asserted-by":"crossref","first-page":"1222","DOI":"10.1016\/j.neurobiolaging.2014.09.005","article-title":"Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology","volume":"36","author":"Dyment D. 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