{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T05:31:18Z","timestamp":1785821478377,"version":"3.56.0"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,9,15]],"date-time":"2022-09-15T00:00:00Z","timestamp":1663200000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100013301","name":"Parkinson's Foundation","doi-asserted-by":"publisher","award":["PF\u2010SPE\u2010874858"],"award-info":[{"award-number":["PF\u2010SPE\u2010874858"]}],"id":[{"id":"10.13039\/100013301","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Keppen\u2013Lubinsky syndrome is caused by pathogenic variants in\n                    <jats:italic>KCNJ6<\/jats:italic>\n                    , which encodes the inwardly rectifying channel subfamily J6. The four confirmed cases reported to date were characterized by severe intellectual disability, global developmental delay, feeding difficulties, and dysmorphic features. All but one of the cases also had a severe form of lipodystrophy, resulting in tightly adherent facial skin and appearance of premature aging. Here, we describe a 36\u2010year\u2010old female with a de novo pathogenic variant in\n                    <jats:italic>KCNJ6<\/jats:italic>\n                    (NM_002240.5: c.460G&gt;T; p.(Gly154Cys)) presenting with mild intellectual disability, subtle dysmorphic features, obsessive\u2013compulsive disorder, and an exaggerated startle response. This case indicates that\n                    <jats:italic>KCNJ6<\/jats:italic>\n                    \u2010related disorders should be considered in patients with less pronounced dysmorphic features and milder cognitive impairment, as well as in patients with startle disorders.\n                  <\/jats:p>","DOI":"10.1111\/cge.14226","type":"journal-article","created":{"date-parts":[[2022,9,7]],"date-time":"2022-09-07T23:16:40Z","timestamp":1662592600000},"page":"103-108","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Expanding the spectrum of\n                    <i>KCNJ6<\/i>\n                    \u2010related disorders: Milder phenotype with pathological startle responses"],"prefix":"10.1111","volume":"103","author":[{"given":"Vesna Marija","family":"van Midden","sequence":"first","affiliation":[{"name":"Department of Neurology Northwestern University Feinberg School of Medicine  Chicago Illinois USA"},{"name":"Department of Neurology University Medical Centre Ljubljana  Ljubljana Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Kinsley","sequence":"additional","affiliation":[{"name":"Department of Neurology Northwestern University Feinberg School of Medicine  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avram","family":"Fraint","sequence":"additional","affiliation":[{"name":"Department of Neurology Northwestern University Feinberg School of Medicine  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dimitri","family":"Krainc","sequence":"additional","affiliation":[{"name":"Department of Neurology Northwestern University Feinberg School of Medicine  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niccol\u00f2 E.","family":"Mencacci","sequence":"additional","affiliation":[{"name":"Department of Neurology Northwestern 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