{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T00:01:50Z","timestamp":1775260910445,"version":"3.50.1"},"reference-count":21,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,11,24]],"date-time":"2020-11-24T00:00:00Z","timestamp":1606176000000},"content-version":"vor","delay-in-days":54,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Heterozygous variants in the <jats:italic>SPATA5<\/jats:italic> gene have recently been described to be associated with epileptic encephalopathy. As of 2019, 37 patients have been described in the published literature. We report a patient with a novel autosomal recessive pathogenic variant in <jats:italic>SPATA5<\/jats:italic> and a clinical phenotype consistent with SPATA5 syndrome, including severe neurological impairment, intellectual disability (ID), generalized intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss. The epileptic clinical features were characterized by infantile spasms associated with seizures with a complex ocular movement; a predominant involvement of the posterior cerebral area and cortical visual impairment were also noticed. This phenotype is highlighted with a review of the literature showing other patients with SPATA5\u2010related disease. This report aims to contribute to further understanding phenotype\/genotype correlations, which are fundamental for the interpretation of data made available by exome sequencing for the diagnosis of epileptic encephalopathies. [<jats:italic>Published with video sequence<\/jats:italic>].<\/jats:p>","DOI":"10.1684\/epd.2020.1204","type":"journal-article","created":{"date-parts":[[2020,11,4]],"date-time":"2020-11-04T12:21:17Z","timestamp":1604492477000},"page":"659-663","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Description of a peculiar alternating ictal electroclinical pattern in a young boy with a novel <i>SPATA5<\/i> mutation<sup>*<\/sup>"],"prefix":"10.1002","volume":"22","author":[{"given":"Caterina","family":"Zanus","sequence":"first","affiliation":[{"name":"Institute for Maternal and Child Health IRCCS \u201cBurlo Garofolo\u201d, Trieste"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Costa","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health IRCCS \u201cBurlo Garofolo\u201d, Trieste"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Flavio","family":"Faletra","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health IRCCS \u201cBurlo Garofolo\u201d, Trieste"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luciana","family":"Musante","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health IRCCS \u201cBurlo Garofolo\u201d, Trieste"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelo","family":"Russo","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit IRCCS Institute of Neurological Sciences, Bologna"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luisa","family":"Grazian","sequence":"additional","affiliation":[{"name":"Unit of Pediatric Ca\u2019 Foncello Hospital  Treviso Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Carrozzi","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health IRCCS \u201cBurlo Garofolo\u201d, Trieste"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,11,24]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.373"},{"key":"e_1_2_6_3_1","first-page":"13","article-title":"mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss. SPATA5","volume":"11","author":"Buchert R.","year":"2016","journal-title":"Orph J Rare Dis."},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410270408"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13670"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2018.0984"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1987.tb08822.x"},{"issue":"15","key":"e_1_2_6_8_1","first-page":"P4.6","article-title":"Mitochondrial dysfunction: consider SPATA5 mutations","volume":"92","author":"Khurana S","year":"2019","journal-title":"Neurology"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12813"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0074-7742(02)49010-1"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1203442"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13735"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1528-1157.2003.25102.x"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2007.01264.x"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0299-8"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-017-0001-6"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2018.03.004"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/5584_2016_206"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.07.014"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-11-548"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(01)00284-4"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2016.11.021"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2020.1204","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:33:29Z","timestamp":1710779609000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2020.1204"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10]]},"references-count":21,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2020,10]]}},"alternative-id":["10.1684\/epd.2020.1204"],"URL":"https:\/\/doi.org\/10.1684\/epd.2020.1204","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10]]},"assertion":[{"value":"2020-01-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-07-03","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-11-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}