{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T02:00:33Z","timestamp":1783476033723,"version":"3.55.0"},"reference-count":32,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2021,4,10]],"date-time":"2021-04-10T00:00:00Z","timestamp":1618012800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,4,10]],"date-time":"2021-04-10T00:00:00Z","timestamp":1618012800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Acta Neurol Belg"],"published-print":{"date-parts":[[2021,6]]},"DOI":"10.1007\/s13760-021-01671-9","type":"journal-article","created":{"date-parts":[[2021,4,10]],"date-time":"2021-04-10T14:02:41Z","timestamp":1618063361000},"page":"749-755","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["White\u2013Sutton syndrome with hot water epilepsy and coexistence of SHOX gene variations"],"prefix":"10.1007","volume":"121","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6002-052X","authenticated-orcid":false,"given":"Sevim","family":"T\u00fcray","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Recep","family":"Er\u00f6z","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,4,10]]},"reference":[{"key":"1671_CR1","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1146\/annurev-genet-110410-132512","volume":"45","author":"H van Bokhoven","year":"2011","unstructured":"van Bokhoven H (2011) Genetic and epigenetic networks in intellectual disabilities. Annu Rev Genet 45:81\u2013104","journal-title":"Annu Rev Genet"},{"key":"1671_CR2","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1016\/j.ajhg.2015.11.024","volume":"98","author":"K Kochinke","year":"2016","unstructured":"Kochinke K, Zweier C, Nijhof B, Fenckova M, Cizek P, Honti F et al (2016) Systematic phenomics analysis deconvolutes genes mutated in intellectual disability into biologically coherent modules. Am J Hum Genet 98:149\u2013164","journal-title":"Am J Hum Genet"},{"issue":"20","key":"1671_CR3","doi-asserted-by":"publisher","first-page":"1921","DOI":"10.1056\/NEJMoa1206524","volume":"367","author":"J de Ligt","year":"2012","unstructured":"de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T et al (2012) Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 367(20):1921\u20131929. https:\/\/doi.org\/10.1056\/NEJMoa1206524","journal-title":"N Engl J Med"},{"key":"1671_CR4","doi-asserted-by":"publisher","first-page":"344","DOI":"10.1038\/nature13394","volume":"511","author":"C Gilissen","year":"2014","unstructured":"Gilissen C, Hehir-Kwa JY, Thung DT, van de Vorst M, van Bon BW, Willemsen MH et al (2014) Genome sequencing identifies major causes of severe intellectual disability. Nature 511:344\u2013347","journal-title":"Nature"},{"issue":"7542","key":"1671_CR5","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1038\/nature14135","volume":"519","author":"Deciphering Developmental Disorders Study","year":"2015","unstructured":"Deciphering Developmental Disorders Study (2015) Large-scale discovery of novel genetic causes of developmental disorders. Nature 519(7542):223\u2013228. https:\/\/doi.org\/10.1038\/nature14135","journal-title":"Nature"},{"key":"1671_CR6","doi-asserted-by":"publisher","first-page":"1215","DOI":"10.1016\/j.neuron.2015.09.016","volume":"87","author":"SJ Sanders","year":"2015","unstructured":"Sanders SJ, He X, Willsey AJ, Ercan-Sencicek AG, Samocha KE, Cicek AE et al (2015) Autism sequencing consortium. In-sights into autism spectrum disorder genomic architecture and biology from 71 risk loci. Neuron 87:1215\u20131233","journal-title":"Neuron"},{"issue":"1","key":"1671_CR7","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13073-015-0253-0","volume":"8","author":"J White","year":"2016","unstructured":"White J, Beck CR, Harel T, Posey JE, Jhangiani SN, Tang S et al (2016) POGZ truncating alleles cause syndromic intellectual disability. Genome Med 8(1):1\u201311","journal-title":"Genome Med"},{"issue":"3","key":"1671_CR8","doi-asserted-by":"publisher","first-page":"541","DOI":"10.1016\/j.ajhg.2016.02.004","volume":"98","author":"HAF Stessman","year":"2016","unstructured":"Stessman HAF, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B et al (2016) Disruption of POGZ is associated with intellectual disability and autism spectrum disorders. Am J Hum Genet 98(3):541\u2013552. https:\/\/doi.org\/10.1016\/j.ajhg.2016.02.004","journal-title":"Am J Hum Genet"},{"issue":"1","key":"1671_CR9","doi-asserted-by":"publisher","first-page":"a000455","DOI":"10.1101\/mcs.a000455","volume":"1","author":"Y Ye","year":"2015","unstructured":"Ye Y, Cho MT, Retterer K, Alexander N, Ben-Omran T, Al-Mureikhi M et al (2015) De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly. Cold Spring Harb Mol Case Stud 1(1):a000455. https:\/\/doi.org\/10.1101\/mcs.a000455","journal-title":"Cold Spring Harb Mol Case Stud"},{"issue":"1","key":"1671_CR10","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1002\/ajmg.a.61380","volume":"182","author":"N Assia Batzir","year":"2020","unstructured":"Assia Batzir N, Posey JE, Song X, Akdemir ZC, Rosenfeld JA, Brown CW et al (2020) Phenotypic expansion of POGZ-related intellectual disability syndrome (White\u2013Sutton syndrome). Am J Med Genet A 182(1):38\u201352. https:\/\/doi.org\/10.1002\/ajmg.a.61380","journal-title":"Am J Med Genet A"},{"key":"1671_CR11","doi-asserted-by":"publisher","first-page":"719","DOI":"10.1038\/ncb2075","volume":"12","author":"RS Nozawa","year":"2010","unstructured":"Nozawa RS, Nagao K, Masuda HT, Iwasaki O, Hirota T, Nozaki N et al (2010) Human POGZ modulates dissociation of HP1alpha from mitotic chromosome arms through Aurora B activation. Nat Cell Biol 12:719\u2013727","journal-title":"Nat Cell Biol"},{"issue":"21","key":"1671_CR12","doi-asserted-by":"publisher","first-page":"4777","DOI":"10.1242\/dev.02057","volume":"132","author":"KK Hanson","year":"2005","unstructured":"Hanson KK, Kelley AC, Bienz M (2005) Loss of Drosophila borealin causes polyploidy, delayed apoptosis and abnormal tissue development. Development 132(21):4777\u20134787","journal-title":"Development"},{"issue":"11","key":"1671_CR13","doi-asserted-by":"publisher","first-page":"501","DOI":"10.1016\/j.tig.2009.09.011","volume":"25","author":"GK Thornton","year":"2009","unstructured":"Thornton GK, Woods CG (2009) Primary microcephaly: do all roads lead to Rome? Trends Genet 25(11):501\u2013510. https:\/\/doi.org\/10.1016\/j.tig.2009.09.011","journal-title":"Trends Genet"},{"key":"1671_CR14","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1038\/ng0597-54","volume":"16","author":"E Rao","year":"1997","unstructured":"Rao E, Weiss B, Fukami M et al (1997) Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 16:54\u201363","journal-title":"Nat Genet"},{"issue":"8","key":"1671_CR15","doi-asserted-by":"publisher","first-page":"1341","DOI":"10.1093\/hmg\/6.8.1341","volume":"6","author":"JW Ellison","year":"1997","unstructured":"Ellison JW, Wardak Z, Young MF, Gehron Robey P, Laig- Webster M et al (1997) PHOG, a candidate gene for involvement in the short stature of Turner syndrome. Hum Mol Genet 6(8):1341\u20131347","journal-title":"Hum Mol Genet"},{"issue":"1","key":"1671_CR16","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1159\/000444596","volume":"7","author":"M Fukami","year":"2016","unstructured":"Fukami M, Seki A, Ogata T (2016) SHOX haploinsufficiency as a cause of syndromic and nonsyndromic short stature. Mol Syndromol 7(1):3\u201311","journal-title":"Mol Syndromol"},{"issue":"3","key":"1671_CR17","doi-asserted-by":"publisher","first-page":"1402","DOI":"10.1210\/jcem.87.3.8328","volume":"87","author":"GA Rappold","year":"2002","unstructured":"Rappold GA, Fukami M, Niesler B, Schiller S, Zumkeller W, Bettendorf M et al (2002) Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. J Clin Endocrinol Metab 87(3):1402\u20131406","journal-title":"J Clin Endocrinol Metab"},{"key":"1671_CR18","doi-asserted-by":"publisher","first-page":"158","DOI":"10.1002\/ajmg.10422","volume":"110","author":"AR Zinn","year":"2002","unstructured":"Zinn AR, Wei F, Zhang L, Elder FF, Scott CI Jr, Marttila P et al (2002) Complete SHOX deficiency causes langer mesomelic dysplasia. Am J Med Genet 110:158\u2013163","journal-title":"Am J Med Genet"},{"key":"1671_CR19","doi-asserted-by":"publisher","first-page":"974","DOI":"10.1016\/j.ajhg.2016.08.006","volume":"99","author":"A Sferra","year":"2016","unstructured":"Sferra A, Baillat G, Rizza T, Barresi S, Flex E, Tasca G et al (2016) TBCE mutations cause early-onset progressive encephalopathy with distal spinal muscular atrophy. Am J Hum Genet 99:974\u2013983","journal-title":"Am J Hum Genet"},{"issue":"17","key":"1671_CR20","doi-asserted-by":"publisher","first-page":"11467","DOI":"10.1074\/jbc.M807781200","volume":"284","author":"K Bartholomeeusen","year":"2009","unstructured":"Bartholomeeusen K, Christ F, Hendrix J, Rain JC, Emiliani S, Benarous R et al (2009) Lens epithelium-derived growth factor\/p75 interacts with the transposase-derived DDE domain of PogZ. J Biol Chem 284(17):11467\u201311477. https:\/\/doi.org\/10.1074\/jbc.M807781200","journal-title":"J Biol Chem"},{"key":"1671_CR21","doi-asserted-by":"publisher","DOI":"10.1176\/appi.books.9780890425596","volume-title":"Diagnostic and statistical manual of mental disorders (DSM-5)","author":"American Psychiatric Association","year":"2013","unstructured":"American Psychiatric Association (2013) Diagnostic and statistical manual of mental disorders (DSM-5). American Psychiatric Association"},{"issue":"7","key":"1671_CR22","doi-asserted-by":"publisher","first-page":"1791","DOI":"10.1002\/ajmg.a.61605","volume":"182","author":"G Pascolini","year":"2020","unstructured":"Pascolini G, Agolini E, Fleischer N, Gulotta E, Cesario C, D\u2019Elia G et al (2020) A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations. Am J Med Genet A 182(7):1791\u20131795. https:\/\/doi.org\/10.1002\/ajmg.a.61605","journal-title":"Am J Med Genet A"},{"issue":"7","key":"1671_CR23","doi-asserted-by":"publisher","first-page":"1965","DOI":"10.1002\/ajmg.a.38255","volume":"173","author":"ML Dentici","year":"2017","unstructured":"Dentici ML, Niceta M, Pantaleoni F, Barresi S, Bencivenga P, Dallapiccola B et al (2017) Expanding the phenotypic spectrum of truncating POGZ mutations: association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism. Am J Med Genet A 173(7):1965\u20131969. https:\/\/doi.org\/10.1002\/ajmg.a.38255","journal-title":"Am J Med Genet A"},{"issue":"2","key":"1671_CR24","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1007\/s13760-019-01122-6","volume":"20","author":"D Samanta","year":"2020","unstructured":"Samanta D, Ramakrishnaiah R, Schaefer B (2020) The neurological aspects related to POGZ mutation: case report and review of CNS malformations and epilepsy. Acta Neurol Belg 20(2):447\u2013450. https:\/\/doi.org\/10.1007\/s13760-019-01122-6","journal-title":"Acta Neurol Belg"},{"issue":"8","key":"1671_CR25","doi-asserted-by":"publisher","first-page":"1631","DOI":"10.1002\/ajmg.a.61206","volume":"179","author":"A Ferretti","year":"2019","unstructured":"Ferretti A, Barresi S, Trivisano M, Ciolfi A, Dentici ML, Radio FC et al (2019) POGZ-related epilepsy: case report and review of the literature. Am J Med Genet A 179(8):1631\u20131636. https:\/\/doi.org\/10.1002\/ajmg.a.61206","journal-title":"Am J Med Genet A"},{"key":"1671_CR26","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1016\/j.eplepsyres.2016.01.010","volume":"121","author":"D Italiano","year":"2016","unstructured":"Italiano D, Striano P, Russo E, Leo A, Spina E, Zara F et al (2016) Genetics of reflex seizures and epilepsies in humans and animals. Epilepsy Res 121:47\u201354. https:\/\/doi.org\/10.1016\/j.eplepsyres.2016.01.010","journal-title":"Epilepsy Res"},{"issue":"5","key":"1671_CR27","doi-asserted-by":"publisher","first-page":"677","DOI":"10.1007\/s00439-009-0718-6","volume":"126","author":"R Ratnapriya","year":"2009","unstructured":"Ratnapriya R, Satishchandra P, Dilip S, Gadre G, Anand A (2009) Familial autosomal dominant reflex epilepsy triggered by hot water maps to 4q24-q28. Hum Genet 126(5):677\u2013683. https:\/\/doi.org\/10.1007\/s00439-009-0718-6","journal-title":"Hum Genet"},{"issue":"7","key":"1671_CR28","doi-asserted-by":"publisher","first-page":"1098","DOI":"10.1111\/epi.13042","volume":"56","author":"DK Nguyen","year":"2015","unstructured":"Nguyen DK, Rouleau I, S\u00e9n\u00e9chal G, Ansaldo AI, Gravel M, Benfenati F et al (2015) X-linked focal epilepsy with reflex bathing seizures: characterization of a distinct epileptic syndrome. Epilepsia 56(7):1098\u20131108. https:\/\/doi.org\/10.1111\/epi.13042","journal-title":"Epilepsia"},{"issue":"2","key":"1671_CR29","doi-asserted-by":"publisher","first-page":"134","DOI":"10.1055\/s-0034-1399754","volume":"46","author":"R Santos-Silva","year":"2015","unstructured":"Santos-Silva R, Passas A, Rocha C, Figueiredo R, Mendes-Ribeiro J, Fernandes S et al (2015) Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype. Neuropediatrics 46(2):134\u2013138. https:\/\/doi.org\/10.1055\/s-0034-1399754","journal-title":"Neuropediatrics"},{"key":"1671_CR30","doi-asserted-by":"publisher","first-page":"541","DOI":"10.1007\/s00439-009-0648-3","volume":"125","author":"R Ratnapriya","year":"2009","unstructured":"Ratnapriya R, Satishchandra P, Kumar SD, Gadre G, Reddy R, Anand A (2009) A locus for autosomal dominant reflex epilepsy precipitated by hot water maps at chromosome 10q21.3-q22.3. Hum Genet 125:541\u2013549","journal-title":"Hum Genet"},{"issue":"2","key":"1671_CR31","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1007\/s12041-018-0947-3","volume":"97","author":"KR Karan","year":"2018","unstructured":"Karan KR, Satishchandra P, Sinha S, Anand A (2018) A genetic locus for sensory epilepsy precipitated by contact with hot water maps to chromosome 9p24.3-p23. J Genet 97(2):391\u2013398","journal-title":"J Genet"},{"issue":"3","key":"1671_CR32","doi-asserted-by":"publisher","first-page":"407","DOI":"10.1111\/cge.13894","volume":"99","author":"A Garde","year":"2021","unstructured":"Garde A, Cornaton J, Sorlin A, Moutton S, Nicolas C, Juif C et al (2021) Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations. Clin Genet 99(3):407\u2013417","journal-title":"Clin Genet"}],"container-title":["Acta Neurologica Belgica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13760-021-01671-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s13760-021-01671-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13760-021-01671-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,5,29]],"date-time":"2021-05-29T04:12:24Z","timestamp":1622261544000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s13760-021-01671-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4,10]]},"references-count":32,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2021,6]]}},"alternative-id":["1671"],"URL":"https:\/\/doi.org\/10.1007\/s13760-021-01671-9","relation":{},"ISSN":["0300-9009","2240-2993"],"issn-type":[{"value":"0300-9009","type":"print"},{"value":"2240-2993","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,4,10]]},"assertion":[{"value":"13 March 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 April 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 April 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"Ethics committee approval for the study was obtained from Duzce University Clinical Research Ethics Committee (No. 2020\/232).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical committee approval"}}]}}