{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T05:19:10Z","timestamp":1787894350507,"version":"build-2784847793"},"reference-count":19,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,12,22]],"date-time":"2025-12-22T00:00:00Z","timestamp":1766361600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,12,22]],"date-time":"2025-12-22T00:00:00Z","timestamp":1766361600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001407","name":"Department of Biotechnology, Ministry of Science and Technology, India","doi-asserted-by":"publisher","award":["BT\/PR26428\/MED\/12\/783\/2017"],"award-info":[{"award-number":["BT\/PR26428\/MED\/12\/783\/2017"]}],"id":[{"id":"10.13039\/501100001407","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Plexin\u2010A1 is involved in axonal guidance in the developing human brain. Variants in the\n                    <jats:italic>PLXNA1<\/jats:italic>\n                    gene are associated with a neurodevelopmental disorder characterized by early\u2010onset epilepsy, intellectual disability, syndromic features, and brain and eye anomalies. We report a 19\u2010month\u2010old boy who presented with global developmental delay, right\u2010sided ptosis, and a growth pattern above the expected range. Malformations of cortical development in the form of focal pachygyria and polymicrogyria were also observed. Cytogenetic microarray and trio whole\u2010exome sequencing done in 2020 failed to detect any candidate variants. On re\u2010analysis of the exome in 2025, we detected a novel homozygous splice site variant in\n                    <jats:italic>PLXNA1:<\/jats:italic>\n                    c.4870+1G&gt;A. This variant is predicted to cause aberrant splicing and premature truncation of the protein. The clinical features of pachygyria with polymicrogyria and growth pattern above the expected range are novel and contribute to the growing phenotypic spectrum of\n                    <jats:italic>PLXNA1\u2010<\/jats:italic>\n                    related neurodevelopmental disorders.\n                  <\/jats:p>","DOI":"10.1002\/ajmga.70028","type":"journal-article","created":{"date-parts":[[2025,12,22]],"date-time":"2025-12-22T09:18:53Z","timestamp":1766395133000},"page":"1077-1082","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Case Report of\n                    <i>PLXNA1<\/i>\n                    \u2010Related Dworschak\u2010Punetha Neurodevelopmental Disorder With Pachygyria and Polymicrogyria"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8044-2754","authenticated-orcid":false,"given":"Niladri","family":"Das","sequence":"first","affiliation":[{"name":"Department of 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