{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T16:46:15Z","timestamp":1791477975208,"version":"4.3.4"},"reference-count":26,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2020,10,1]],"date-time":"2020-10-01T00:00:00Z","timestamp":1601510400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,10,1]],"date-time":"2020-10-01T00:00:00Z","timestamp":1601510400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["brainanddevelopment.com","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Brain and Development"],"published-print":{"date-parts":[[2020,10]]},"DOI":"10.1016\/j.braindev.2020.06.005","type":"journal-article","created":{"date-parts":[[2020,6,26]],"date-time":"2020-06-26T23:32:52Z","timestamp":1593214372000},"page":"646-654","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"title":["Clinical spectrum of KIAA2022\/NEXMIF pathogenic variants in males and females: Report of three patients from Indian kindred with a review of published patients"],"prefix":"10.1016","volume":"42","author":[{"given":"Prateek Kumar","family":"Panda","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Indar Kumar","family":"Sharawat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kriti","family":"Joshi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lesa","family":"Dawman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rishi","family":"Bolia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.braindev.2020.06.005_b0005","doi-asserted-by":"crossref","first-page":"1375","DOI":"10.1002\/ajmg.a.38710","article-title":"X-linked intellectual disability update 2017","volume":"176","author":"Neri","year":"2018","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.braindev.2020.06.005_b0010","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/j.braindev.2019.11.003","article-title":"Metabolic crisis after trivial head trauma in late-onset isolated sulfite oxidase deficiency: Report of two new cases and review of published patients","volume":"42","author":"Sharawat","year":"2020","journal-title":"Brain Dev"},{"key":"10.1016\/j.braindev.2020.06.005_b0015","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1016\/j.braindev.2020.01.004","article-title":"COL6A3 mutation associated early-onset isolated dystonia (DYT)-27: Report of a new case and review of published literature","volume":"42","author":"Panda","year":"2020","journal-title":"Brain Dev"},{"key":"10.1016\/j.braindev.2020.06.005_b0020","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1007\/s12098-018-2796-8","article-title":"Response to carbamazepine in KCNQ2 related early infantile epileptic encephalopathy","volume":"86","author":"Sharawat","year":"2019","journal-title":"Indian J Pediatr"},{"key":"10.1016\/j.braindev.2020.06.005_b0025","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1016\/j.ajhg.2013.06.013","article-title":"XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing","volume":"93","author":"Piton","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.braindev.2020.06.005_b0030","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1002\/ajmg.a.37479","article-title":"NEXMIF nonsense mutation in a symptomatic female","volume":"170","author":"Farach","year":"2016","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.braindev.2020.06.005_b0035","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1136\/jmg.2004.021626","article-title":"Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males","volume":"41","author":"Cantagrel","year":"2004","journal-title":"J Med Genet"},{"key":"10.1016\/j.braindev.2020.06.005_b0040","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1007\/s13760-018-0887-y","article-title":"NEXMIF-related disorders can cause Jeavons (eyelid myoclonia with absence) syndrome","volume":"120","author":"Samanta","year":"2020","journal-title":"Acta Neurol Belg"},{"key":"10.1016\/j.braindev.2020.06.005_b0045","doi-asserted-by":"crossref","first-page":"1455","DOI":"10.1002\/ajmg.a.38667","article-title":"Clinical spectrum of NEXMIF pathogenic variants in males: Case report of two boys with NEXMIF pathogenic variants and review of the literature","volume":"176","author":"Lorenzo","year":"2018","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.braindev.2020.06.005_b0050","doi-asserted-by":"crossref","first-page":"1349","DOI":"10.1002\/ajmg.a.37002","article-title":"Delineation of the NEXMIF mutation phenotype: two patients with X-linked intellectual disability and distinctive features","volume":"167","author":"Kuroda","year":"2015","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.braindev.2020.06.005_b0055","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1136\/jmedgenet-2016-103909","article-title":"De novo mutations of NEXMIF in females cause intellectual disability and intractable epilepsy","volume":"53","author":"de Lange","year":"2016","journal-title":"J Med Genet"},{"issue":"1289\u20131296","key":"10.1016\/j.braindev.2020.06.005_b0060","article-title":"Genetic mechanisms leading to primary amenorrhea in balanced X-autosome translocations","volume":"103","author":"Moys\u00e9s-Oliveira","year":"2015","journal-title":"Fertil Steril"},{"key":"10.1016\/j.braindev.2020.06.005_b0065","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1038\/s10038-018-0459-2","article-title":"Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother","volume":"63","author":"Lambert","year":"2018","journal-title":"J Hum Genet"},{"key":"10.1016\/j.braindev.2020.06.005_b0070","doi-asserted-by":"crossref","first-page":"756","DOI":"10.1111\/cge.12854","article-title":"De novo loss of function mutations in NEXMIF are associated with epilepsy and neurodevelopmental delay in females","volume":"91","author":"Webster","year":"2017","journal-title":"Clin Genet"},{"key":"10.1016\/j.braindev.2020.06.005_b0075","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1159\/000498835","article-title":"Torpedo Maculopathy Associated with NEXMIF Mutation","volume":"10","author":"Alarcon-Martinez","year":"2019","journal-title":"Mol Syndromol"},{"key":"10.1016\/j.braindev.2020.06.005_b0080","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1111\/cge.12528","article-title":"A duplication of the whole NEXMIF gene validates the gene role in the pathogenesis of intellectual disability and autism","volume":"88","author":"Charzewska","year":"2015","journal-title":"Clin Genet"},{"key":"10.1016\/j.braindev.2020.06.005_b0085","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1016\/j.gene.2013.08.032","article-title":"A prenatally ascertained, maternally inherited 14.8 Mb duplication of chromosomal bands Xq13.2-q21.31 associated with multiple congenital abnormalities in a male fetus","volume":"530","author":"Sismani","year":"2013","journal-title":"Gene"},{"key":"10.1016\/j.braindev.2020.06.005_b0090","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1002\/ajmg.b.32355","article-title":"X-linked intellectual disability related genes disrupted by balanced X-autosome translocations","volume":"168","author":"Moys\u00e9s-Oliveira","year":"2015","journal-title":"Am J Med Genet Part B Neuropsychiatr Genet Off Publ Int Soc Psychiatr Genet"},{"key":"10.1016\/j.braindev.2020.06.005_b0095","doi-asserted-by":"crossref","first-page":"3306","DOI":"10.1093\/hmg\/ddt187","article-title":"Loss of function of NEXMIF causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth","volume":"22","author":"Van Maldergem","year":"2013","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.braindev.2020.06.005_b0100","doi-asserted-by":"crossref","first-page":"1301","DOI":"10.1001\/jamaneurol.2017.1775","article-title":"Prevalence of pathogenic copy number variation in adults with pediatric-onset epilepsy and intellectual disability","volume":"74","author":"Borlot","year":"2017","journal-title":"JAMA Neurol"},{"key":"10.1016\/j.braindev.2020.06.005_b0105","doi-asserted-by":"crossref","DOI":"10.1523\/ENEURO.0238-16.2016","article-title":"The X-linked autism protein NEXMIF\/KIDLIA regulates neurite outgrowth via N-cadherin and \u03b4-catenin signaling","volume":"3","author":"Gilbert","year":"2016","journal-title":"eNeuro"},{"key":"10.1016\/j.braindev.2020.06.005_b0110","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1016\/j.neuint.2013.09.011","article-title":"XLMR protein related to neurite extension (Xpn\/NEXMIF) regulates cell-cell and cell-matrix adhesion and migration","volume":"63","author":"Magome","year":"2013","journal-title":"Neurochem Int"},{"key":"10.1016\/j.braindev.2020.06.005_b0115","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1523\/JNEUROSCI.0222-19.2019","article-title":"NEXMIF\/KIDLIA knock-out mouse demonstrates autism-like behaviors, memory deficits, and impairments in synapse formation and function","volume":"40","author":"Gilbert","year":"2020","journal-title":"J Neurosci"},{"key":"10.1016\/j.braindev.2020.06.005_b0120","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1093\/brain\/aws323","article-title":"New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum","volume":"136","author":"Bahi-Buisson","year":"2013","journal-title":"Brain J Neurol"},{"key":"10.1016\/j.braindev.2020.06.005_b0125","doi-asserted-by":"crossref","DOI":"10.1177\/2329048X19836589","article-title":"Doublecortin mutation in an adolescent male","volume":"6","author":"Zare","year":"2019","journal-title":"Child Neurol Open"},{"key":"10.1016\/j.braindev.2020.06.005_b0130","doi-asserted-by":"crossref","first-page":"199","DOI":"10.3389\/fnmol.2017.00199","article-title":"Distinct features of doublecortin as a marker of neuronal migration and its implications in cancer cell mobility","volume":"10","author":"Ayanlaja","year":"2017","journal-title":"Front Mol Neurosci"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760420301698?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760420301698?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T19:48:47Z","timestamp":1759952927000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760420301698"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10]]},"references-count":26,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2020,10]]}},"alternative-id":["S0387760420301698"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2020.06.005","relation":{},"ISSN":["0387-7604"],"issn-type":[{"value":"0387-7604","type":"print"}],"subject":[],"published":{"date-parts":[[2020,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical spectrum of KIAA2022\/NEXMIF pathogenic variants in males and females: Report of three patients from Indian kindred with a review of published patients","name":"articletitle","label":"Article Title"},{"value":"Brain and Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.braindev.2020.06.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}