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Here, we describe 10 individuals with\n                    <jats:italic>CAMTA1<\/jats:italic>\n                    variants: nine previously unreported (likely) pathogenic variants comprising one missense, four frameshift and four nonsense variants, and one missense variant of unknown significance. Six patients were diagnosed following whole exome sequencing and four individuals with exome\u2010based targeted panel analysis. Most of them present with developmental delay, manifesting in speech and motor delay. Other frequent findings are hypotonia, cognitive impairment, cerebellar dysfunction, oculomotor abnormalities, and behavioral problems. Feeding problems occur more frequently than previously observed. In addition, we present a systematic review of 19 previously published individuals with causal variants, including copy number, truncating, and missense variants. We note a tendency of more severe cognitive impairment and recurrent dysmorphic features in individuals with a copy number variant. Pathogenic variants are predominantly observed in and near the N\u2010 and C\u2010 terminal functional domains. Clinical heterogeneity is observed, but 3\u2032\u2010terminal variants seem to associate with less pronounced cerebellar dysfunction.\n                  <\/jats:p>","DOI":"10.1111\/cge.13874","type":"journal-article","created":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T06:56:45Z","timestamp":1604213805000},"page":"259-268","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Expanding the molecular spectrum and the neurological phenotype related to\n                    <scp>\n                      <i>CAMTA1<\/i>\n                    <\/scp>\n                    variants"],"prefix":"10.1111","volume":"99","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2714-2450","authenticated-orcid":false,"given":"Eva Z.","family":"Jacobs","sequence":"first","affiliation":[{"name":"Center for Medical Genetics Ghent Ghent University Hospital  Ghent Belgium"},{"name":"Department for Biomolecular Medicine Ghent University  Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen","family":"Brown","sequence":"additional","affiliation":[{"name":"University of Colorado, Section of Genetics Department of Pediatrics, The Children's Hospital Colorado  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa C.","family":"Byler","sequence":"additional","affiliation":[{"name":"Division of Development, Behavior and Genetics SUNY Upstate Medical University  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erika","family":"D'haenens","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent Ghent University Hospital  Ghent Belgium"},{"name":"Department for Biomolecular Medicine Ghent University  Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annelies","family":"Dheedene","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent Ghent University Hospital  Ghent Belgium"},{"name":"Department for Biomolecular Medicine Ghent University  Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsay B.","family":"Henderson","sequence":"additional","affiliation":[{"name":"GeneDx, Inc. Laboratory  Gaithersburg Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer B.","family":"Humberson","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics University of Virginia Children's Hospital  Charlottesville Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard H.","family":"van Jaarsveld","sequence":"additional","affiliation":[{"name":"Department of Genetics University Medical Center Utrecht  Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4388-0290","authenticated-orcid":false,"given":"Farah","family":"Kanani","sequence":"additional","affiliation":[{"name":"Sheffield Children's Hospital NHS Foundation Trust  Western Bank Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert Roger","family":"Lebel","sequence":"additional","affiliation":[{"name":"Division of Development, Behavior and Genetics SUNY Upstate Medical University  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisca","family":"Millan","sequence":"additional","affiliation":[{"name":"GeneDx, Inc. Laboratory  Gaithersburg Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renske","family":"Oegema","sequence":"additional","affiliation":[{"name":"Department of Genetics University Medical Center Utrecht  Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann","family":"Oostra","sequence":"additional","affiliation":[{"name":"Department for Biomolecular Medicine Ghent University  Ghent Belgium"},{"name":"Department of Neuropediatrics Ghent University Hospital  Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Parker","sequence":"additional","affiliation":[{"name":"Sheffield Children's Hospital NHS Foundation Trust  Western Bank Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsay","family":"Rhodes","sequence":"additional","affiliation":[{"name":"GeneDx, Inc. Laboratory  Gaithersburg Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margarita","family":"Saenz","sequence":"additional","affiliation":[{"name":"University of Colorado, Section of Genetics Department of Pediatrics, The Children's Hospital Colorado  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurie H.","family":"Seaver","sequence":"additional","affiliation":[{"name":"Medical Genetics and Genomics Spectrum Health Helen Devos Children's Hospital  Grand Rapids Michigan USA"},{"name":"Department of Pediatrics and Human Development Michigan State University College of Human Medicine  Grand Rapids Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yue","family":"Si","sequence":"additional","affiliation":[{"name":"GeneDx, Inc. 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