{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T23:28:59Z","timestamp":1787614139241,"version":"build-2736575974"},"reference-count":27,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2022,2,24]],"date-time":"2022-02-24T00:00:00Z","timestamp":1645660800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["NS106298"],"award-info":[{"award-number":["NS106298"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"International Centre for Genomic Medicine in Neuromuscular Diseases","award":["MR\/S005021\/1"],"award-info":[{"award-number":["MR\/S005021\/1"]}]},{"name":"Wellcome Trust and strategic","award":["WT093205MA"],"award-info":[{"award-number":["WT093205MA"]}]},{"name":"Wellcome Trust and strategic","award":["WT104033AIA"],"award-info":[{"award-number":["WT104033AIA"]}]},{"name":"Queen Square Genomics group"},{"DOI":"10.13039\/501100000765","name":"University College London","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000765","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012317","name":"University College London Hospitals Biomedical Research Centre","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012317","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,6,30]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The Kennedy pathways catalyse the de novo synthesis of phosphatidylcholine and phosphatidylethanolamine, the most abundant components of eukaryotic cell membranes. In recent years, these pathways have moved into clinical focus because four of ten genes involved have been associated with a range of autosomal recessive rare diseases such as a neurodevelopmental disorder with muscular dystrophy (CHKB), bone abnormalities and cone-rod dystrophy (PCYT1A) and spastic paraplegia (PCYT2, SELENOI).<\/jats:p>\n                  <jats:p>We identified six individuals from five families with bi-allelic variants in CHKA presenting with severe global developmental delay, epilepsy, movement disorders and microcephaly. Using structural molecular modelling and functional testing of the variants in a cell-based Saccharomyces cerevisiae model, we determined that these variants reduce the enzymatic activity of CHKA and confer a significant impairment of the first enzymatic step of the Kennedy pathway.<\/jats:p>\n                  <jats:p>In summary, we present CHKA as a novel autosomal recessive gene for a neurodevelopmental disorder with epilepsy and microcephaly.<\/jats:p>","DOI":"10.1093\/brain\/awac074","type":"journal-article","created":{"date-parts":[[2022,2,21]],"date-time":"2022-02-21T15:25:34Z","timestamp":1645457134000},"page":"1916-1923","source":"Crossref","is-referenced-by-count":17,"title":["Bi-allelic variants in\n                    <i>CHKA<\/i>\n                    cause a neurodevelopmental disorder with epilepsy and microcephaly"],"prefix":"10.1093","volume":"145","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4585-8601","authenticated-orcid":false,"given":"Chiara","family":"Kl\u00f6ckner","sequence":"first","affiliation":[{"name":"Institute of Human Genetics, University of Leipzig Medical Center , 04103 Leipzig , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9921-5487","authenticated-orcid":false,"given":"J Pedro","family":"Fern\u00e1ndez-Murray","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, Dalhousie University , Halifax, Nova Scotia B3N 0A1 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7962-3566","authenticated-orcid":false,"given":"Mahtab","family":"Tavasoli","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, Dalhousie University , Halifax, Nova Scotia B3N 0A1 , 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Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Somayeh","family":"Bakhtiari","sequence":"additional","affiliation":[{"name":"Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children\u2019s Hospital , Phoenix, Arizona 85004 , USA"},{"name":"Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine , Phoenix, Arizona 85004 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1373-7891","authenticated-orcid":false,"given":"Michael C","family":"Kruer","sequence":"additional","affiliation":[{"name":"Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children\u2019s Hospital , Phoenix, Arizona 85004 , USA"},{"name":"Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine , Phoenix, Arizona 85004 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hossein","family":"Darvish","sequence":"additional","affiliation":[{"name":"Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences , Gorgan , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8989-5741","authenticated-orcid":false,"given":"Saghar Ghasemi","family":"Firouzabadi","sequence":"additional","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences , Tehran , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex","family":"Pagnozzi","sequence":"additional","affiliation":[{"name":"CSIRO Health and Biosecurity, The Australian e-Health Research Centre , Brisbane, QLD 4029 , 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