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We report a boy who presented at 5\u2009years of age with epilepsy and developmental delays. His family history was notable for epilepsy in two prior generations associated with variable developmental and cognitive impact. Exome sequencing identified a novel missense variant in <jats:italic>CEP85L<\/jats:italic> [NM_001042475.2; c.196A&gt;G, p.(Thr66Ala)] which segregated in four affected family members across three generations. Brain imaging of the proband demonstrated a posterior lissencephaly pattern with pachygyria, while other affected family members demonstrated a similar subcortical band heterotopia. This report expands the phenotypic spectrum of this rare disorder by describing a novel variant in <jats:italic>CEP85L<\/jats:italic> in a family with variable clinical and neuroimaging findings.<\/jats:p>","DOI":"10.1002\/ajmg.a.63380","type":"journal-article","created":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T07:08:26Z","timestamp":1692947306000},"page":"2878-2883","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Further characterization of <scp><i>CEP85L<\/i><\/scp>\u2010associated lissencephaly type 10: Report of a three\u2010generation family and review of the literature"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4820-5641","authenticated-orcid":false,"given":"Heather","family":"Leduc\u2010Pessah","sequence":"first","affiliation":[{"name":"Division of Neurology, Department of Pediatrics Children's Hospital of Eastern Ontario  Ottawa Ontario 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