{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T02:30:01Z","timestamp":1783132201070,"version":"3.54.6"},"reference-count":12,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2025,1,20]],"date-time":"2025-01-20T00:00:00Z","timestamp":1737331200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurology International"],"abstract":"<jats:p>Background\/Objectives: ZNF711(Zinc finger protein 711) encodes a zinc finger protein of currently undefined function, located on the X chromosome. Current knowledge includes a limited number of case reports where this gene has been exclusively associated with X-linked intellectual disability (XLID). As far as we are aware, we report the first cases of epilepsy associated with this particular variant. Our aim is to further delineate the phenotypic spectrum of ZNF711 gene pathogenic variants, adding clinical features to this rare condition, following a genotype-first approach. Case presentation: We describe the familiar case of two male siblings presenting with moderate intellectual disability (ID), language delay, and motor stereotypies. Additionally, they experienced generalized tonic\u2013clonic seizures (GTCSs) and myoclonic seizures with interictal electroencephalographic abnormalities. Both children underwent various genetic testing and counselling, including an extended next-generation sequencing (NGS) panel, revealing a hemizygous c.657C &gt; G pathogenic variant in the ZNF711 gene from maternal inheritance. Conclusions: This case expands the clinical range of ZNF711 variants by highlighting epilepsy as a potential comorbidity and suggesting other possible causal candidates for generalized epilepsy. Moreover, it emphasizes the need for further research into the phenotypic spectrum associated with this variant.<\/jats:p>","DOI":"10.3390\/neurolint17010014","type":"journal-article","created":{"date-parts":[[2025,1,20]],"date-time":"2025-01-20T04:04:12Z","timestamp":1737345852000},"page":"14","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Electroencephalographic and Epilepsy Findings in ZNF711 Variants: A Case Series of Two Siblings"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-4120-4878","authenticated-orcid":false,"given":"Michele","family":"Minerva","sequence":"first","affiliation":[{"name":"Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8630-6718","authenticated-orcid":false,"given":"Lorenzo","family":"Perilli","sequence":"additional","affiliation":[{"name":"Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samanta","family":"Carbone","sequence":"additional","affiliation":[{"name":"Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margherita Maria","family":"Rossi","sequence":"additional","affiliation":[{"name":"Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Lotti","sequence":"additional","affiliation":[{"name":"Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"Lonoce","sequence":"additional","affiliation":[{"name":"Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Rosaria","family":"Curcio","sequence":"additional","affiliation":[{"name":"Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore","family":"Grosso","sequence":"additional","affiliation":[{"name":"Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,1,20]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1016\/j.chc.2017.03.001","article-title":"Intellectual Disability and Language Disorder","volume":"26","author":"Marrus","year":"2017","journal-title":"Child. Adolesc. Psychiatr. Clin. N. Am."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1002\/mrdd.10031","article-title":"The epidemiology of mental retardation: Challenges and opportunities in the new millennium","volume":"8","author":"Leonard","year":"2002","journal-title":"Ment. Retard. Dev. Disabil. Res. Rev."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/j.gene.2016.12.013","article-title":"Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability","volume":"605","author":"Reyniers","year":"2017","journal-title":"Gene"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/s13039-017-0324-6","article-title":"A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient","volume":"10","author":"Liang","year":"2017","journal-title":"Mol. Cytogenet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1038\/s41431-021-01018-1","article-title":"Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711","volume":"30","author":"Wang","year":"2022","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"Bu, S., Lv, Y., Liu, Y., Qiao, S., and Wang, H. (2021). Zinc Finger Proteins in Neuro-Related Diseases Progression. Front. Neurosci., 15.","DOI":"10.3389\/fnins.2021.760567"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/j.molcel.2010.03.002","article-title":"A functional link between the histone demethylase PHF8 and the transcription factor ZNF711 in X-linked mental retardation","volume":"38","author":"Christensen","year":"2010","journal-title":"Mol. Cell"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1016\/j.tig.2009.05.002","article-title":"The genetic landscape of intellectual disability arising from chromosome X","volume":"25","author":"Shoubridge","year":"2009","journal-title":"Trends Genet."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1111\/cge.13698","article-title":"Non-Syndromic X Linked Intellectual Disability: Current knowledge in light of the recent advances in molecular and functional studies","volume":"97","author":"Tejada","year":"2020","journal-title":"Clin. Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1038\/ng.367","article-title":"A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation","volume":"41","author":"Tarpey","year":"2009","journal-title":"Nat. Genet."},{"key":"ref_11","doi-asserted-by":"crossref","unstructured":"Shevlyakov, A.D., Kolesnikova, T.O., de Abreu, M.S., Petersen, E.V., Yenkoyan, K.B., Demin, K.A., and Kalueff, A.V. (2023). Forward Genetics-Based Approaches to Understanding the Systems Biology and Molecular Mechanisms of Epilepsy. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms24065280"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"682","DOI":"10.15252\/embr.201541569","article-title":"Sonic hedgehog is a regulator of extracellular glutamate levels and epilepsy","volume":"17","author":"Feng","year":"2016","journal-title":"EMBO Rep."}],"container-title":["Neurology International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2035-8377\/17\/1\/14\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T10:32:01Z","timestamp":1759919521000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2035-8377\/17\/1\/14"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,20]]},"references-count":12,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,1]]}},"alternative-id":["neurolint17010014"],"URL":"https:\/\/doi.org\/10.3390\/neurolint17010014","relation":{},"ISSN":["2035-8377"],"issn-type":[{"value":"2035-8377","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,20]]}}}