{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T17:21:38Z","timestamp":1777742498675,"version":"3.51.4"},"reference-count":10,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,1,11]],"date-time":"2023-01-11T00:00:00Z","timestamp":1673395200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Pathogenic variants in\n                    <jats:italic>CWF19L1<\/jats:italic>\n                    lead to a rare autosomal recessive form of hereditary ataxia with only seven cases reported to date. Here, we describe four additional unrelated patients with biallelic variants in\n                    <jats:italic>CWF19L1<\/jats:italic>\n                    (age range: 6\u201322\u2009years) and provide a comprehensive review of the literature. The clinical spectrum was broad, including mild to profound global developmental delay; global or motor regression in infancy or adolescence; childhood\u2010onset ataxia and cerebellar atrophy; and early\u2010onset epilepsy. Since only two previously reported patients were adults, our cohort expands our understanding of the evolution of symptoms from childhood into early adulthood. Taken together, we describe that CWF19L1\u2010related disorder presents with developmental and epileptic encephalopathy with treatment\u2010resistant seizures and intellectual disability in childhood followed by progressive ataxia and other extrapyramidal movement disorders in adolescence.\n                  <\/jats:p>","DOI":"10.1111\/cge.14275","type":"journal-article","created":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T07:58:29Z","timestamp":1669881509000},"page":"566-573","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Expansion of the phenotypic and molecular spectrum of\n                    <scp>CWF19L1<\/scp>\n                    \u2010related disorder"],"prefix":"10.1111","volume":"103","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9010-7378","authenticated-orcid":false,"given":"Carolina","family":"Alvarez","sequence":"first","affiliation":[{"name":"Department for genetics and personalized medicine Danish Epilepsy Centre  Dianalund Denmark"},{"name":"Department of Pediatric Neurology Avanced Epilepsy Center, Cl\u00ednica Las Condes  Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mona","family":"Grimmel","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of Tuebingen  Tuebingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0026-4714","authenticated-orcid":false,"given":"Darius","family":"Ebrahimi\u2010Fakhari","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victoria G.","family":"Paul","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of M\u00fcnster  M\u00fcnster Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalie","family":"Deininger","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of Tuebingen  Tuebingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelika","family":"Riess","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of Tuebingen  Tuebingen Germany"},{"name":"Centre for Rare Diseases University of Tuebingen  Tuebingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tobias","family":"Haack","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of Tuebingen  Tuebingen Germany"},{"name":"Centre for Rare Diseases University of Tuebingen  Tuebingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7138-6022","authenticated-orcid":false,"given":"Elena","family":"Gardella","sequence":"additional","affiliation":[{"name":"Department for genetics and personalized medicine Danish Epilepsy Centre  Dianalund Denmark"},{"name":"Department of Clinical Neurophysiology Danish Epilepsy Centre  Dianalund Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9664-1448","authenticated-orcid":false,"given":"Rikke S.","family":"M\u00f8ller","sequence":"additional","affiliation":[{"name":"Department for genetics and personalized medicine Danish Epilepsy Centre  Dianalund Denmark"},{"name":"Department Regional Health Research University of Southern Denmark  Odense Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4986-8006","authenticated-orcid":false,"given":"Allan","family":"Bayat","sequence":"additional","affiliation":[{"name":"Department for genetics and personalized medicine Danish Epilepsy Centre  Dianalund Denmark"},{"name":"Department Regional Health Research University of Southern Denmark  Odense Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,1,11]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-019-01052-2"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001053"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1080\/01616412.2020.1831331"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37632"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.158"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22844"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13709"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2019.12.023"}],"container-title":["Clinical 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