{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T07:17:13Z","timestamp":1792826233630,"version":"4.5.0"},"reference-count":9,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,10,5]],"date-time":"2024-10-05T00:00:00Z","timestamp":1728086400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["DFG 458949627"],"award-info":[{"award-number":["DFG 458949627"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["ZE 1213\/2\u20101"],"award-info":[{"award-number":["ZE 1213\/2\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Plasma membrane calcium ATPases (PMCAs) encoded by\n                    <jats:italic>ATP2B<\/jats:italic>\n                    genes have been implicated in Mendelian diseases with ataxia, dystonia, and intellectual disability. Work to date has shown that\n                    <jats:italic>ATP2B2<\/jats:italic>\n                    (encoding PMCA2) is required for synaptic function and Purkinje\u2010cell integrity in the cerebellum. A recent case series has linked\n                    <jats:italic>ATP2B2<\/jats:italic>\n                    to a novel entity, characterized by neurodevelopmental and movement phenotypes, in only seven individuals. We called for collaboration to collect five unpublished families affected by the new rare\n                    <jats:italic>ATP2B2<\/jats:italic>\n                    \u2010related condition. Exome\u2010\/genome sequencing\u2010identified genotypes included four likely pathogenic\/pathogenic heterozygous de novo missense variants and one dominantly inherited end\u2010truncating frameshift allele. The six affected individuals shared features with the described patients including developmental delay, cognitive disturbances, epilepsy, autistic traits, and motor disorders. Striking cerebellar atrophy was observed in one affected individual. In association with hearing loss and movement abnormalities, we report a recurrent p.(Glu457Lys) substitution, previously documented in a neurologically impaired\n                    <jats:italic>ATP2B2<\/jats:italic>\n                    mouse mutant. Our study further delineates the mutational spectrum and presentation of a human syndrome caused by\n                    <jats:italic>ATP2B2<\/jats:italic>\n                    variants, confirming the importance of PMCA2 in neurotypical and cerebellar development.\n                  <\/jats:p>","DOI":"10.1111\/cge.14622","type":"journal-article","created":{"date-parts":[[2024,10,5]],"date-time":"2024-10-05T06:04:12Z","timestamp":1728108252000},"page":"91-97","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Consolidating the Role of Mutated\n                    <i>ATP2B2<\/i>\n                    in Neurodevelopmental and Cerebellar Pathologies"],"prefix":"10.1111","volume":"107","author":[{"given":"Antonia M.","family":"Stehr","sequence":"first","affiliation":[{"name":"School of Medicine and Health Institute of Human Genetics, Technical University of Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jerica","family":"Lenberg","sequence":"additional","affiliation":[{"name":"Rady Children's Institute for Genomic Medicine  San Diego California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Friedman","sequence":"additional","affiliation":[{"name":"Rady Children's Institute for Genomic Medicine  San Diego California USA"},{"name":"Division of Neurology Rady Children's Hospital  San Diego California USA"},{"name":"Department of Neurosciences University of California  La Jolla California USA"},{"name":"Department of Pediatrics University of California  La Jolla California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dries","family":"Dobbelaere","sequence":"additional","affiliation":[{"name":"Medical Reference Center for Inherited Metabolic Diseases Jeanne de Flandre University Hospital  Lille France"},{"name":"RADEME Research Team for Rare Metabolic and Developmental Diseases, EA 7364 CHRU Lille  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Apolline","family":"Imbard","sequence":"additional","affiliation":[{"name":"Laboratoire de Biochimie M\u00e9tabolique, H\u00f4pital Necker\u2010Enfants Malades and Faculty of Pharmacy Universit\u00e9 Paris\u2010Saclay  Paris France"},{"name":"Laboratoire de Biologie m\u00e9dicale Multisites Seqoia \u2010 FMG2025  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8822-816X","authenticated-orcid":false,"given":"Jonathan","family":"Levy","sequence":"additional","affiliation":[{"name":"Laboratoire de Biologie m\u00e9dicale Multisites Seqoia \u2010 FMG2025  Paris France"},{"name":"Genetics Department Robert Debr\u00e9 Hospital, APHP  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Donoghue","sequence":"additional","affiliation":[{"name":"Murdoch Children's Research Institute  Parkville Australia"},{"name":"Department of Paediatrics The University of Melbourne  Parkville Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Derive","sequence":"additional","affiliation":[{"name":"Laboratoire de Biologie m\u00e9dicale Multisites Seqoia \u2010 FMG2025  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radka","family":"Stoeva","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, Centre Hospitalier du Mans  Le Mans France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Gueguen","sequence":"additional","affiliation":[{"name":"Laboratoire de Biologie m\u00e9dicale Multisites Seqoia \u2010 FMG2025  Paris France"},{"name":"Service de G\u00e9n\u00e9tique, CHU de Tours  Tours France"},{"name":"UMR1253, iBrain, Inserm University of Tours  Tours France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Zech","sequence":"additional","affiliation":[{"name":"School of Medicine and Health Institute of Human Genetics, Technical University of Munich  Munich Germany"},{"name":"Institute of Neurogenomics, Helmholtz Munich  Neuherberg Germany"},{"name":"Institute for Advanced Study Technical University of Munich  Garching Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,10,5]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00028.2016"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010018\u20101965\u20101"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2023.100971"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2018.04.009"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1999.1102"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23798"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2016.05.053"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1207488109"}],"container-title":["Clinical 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