{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:07:37Z","timestamp":1791925657752,"version":"4.3.4"},"reference-count":35,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2022,12,8]],"date-time":"2022-12-08T00:00:00Z","timestamp":1670457600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Rare Diseases Models and Mechanisms Network"},{"name":"Recherche Innovation Normandie"},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"name":"European Reference Network for Developmental Anomalies and Intellectual Disability"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,6,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The blood\u2013brain barrier ensures CNS homeostasis and protection from injury. Claudin-5 (CLDN5), an important component of tight junctions, is critical for the integrity of the blood\u2013brain barrier. We have identified de novo heterozygous missense variants in CLDN5 in 15 unrelated patients who presented with a shared constellation of features including developmental delay, seizures (primarily infantile onset focal epilepsy), microcephaly and a recognizable pattern of pontine atrophy and brain calcifications. All variants clustered in one subregion\/domain of the CLDN5 gene and the recurrent variants demonstrate genotype\u2013phenotype correlations. We modelled both patient variants and loss of function alleles in the zebrafish to show that the variants analogous to those in patients probably result in a novel aberrant function in CLDN5. In total, human patient and zebrafish data provide parallel evidence that pathogenic sequence variants in CLDN5 cause a novel neurodevelopmental disorder involving disruption of the blood\u2013brain barrier and impaired neuronal function.<\/jats:p>","DOI":"10.1093\/brain\/awac461","type":"journal-article","created":{"date-parts":[[2022,12,8]],"date-time":"2022-12-08T01:03:26Z","timestamp":1670461406000},"page":"2285-2297","source":"Crossref","is-referenced-by-count":24,"title":["Variants in <i>CLDN5<\/i> cause a syndrome characterized by seizures, microcephaly and brain calcifications"],"prefix":"10.1093","volume":"146","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9239-3846","authenticated-orcid":false,"given":"Ashish R","family":"Deshwar","sequence":"first","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children , Toronto, ON M5G 1X8 , Canada"},{"name":"Genetics and Genome Biology, Research Institute, The Hospital for Sick Children , Toronto, ON M5G 0A4 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3742-1250","authenticated-orcid":false,"given":"Cheryl","family":"Cytrynbaum","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children , Toronto, ON M5G 1X8 , Canada"},{"name":"Genetics and Genome Biology, Research Institute, The Hospital for Sick Children , Toronto, ON M5G 0A4 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harsha","family":"Murthy","sequence":"additional","affiliation":[{"name":"Genetics and Genome Biology, Research Institute, The Hospital for Sick Children , Toronto, ON M5G 0A4 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Zon","sequence":"additional","affiliation":[{"name":"Genetics and Genome Biology, Research Institute, The Hospital for Sick Children , Toronto, ON M5G 0A4 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Chitayat","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children , Toronto, ON M5G 1X8 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Volpatti","sequence":"additional","affiliation":[{"name":"Genetics and Genome Biology, Research Institute, The Hospital for Sick Children , Toronto, ON M5G 0A4 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth","family":"Newbury-Ecob","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust , Bristol, BS2 8EG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sian","family":"Ellard","sequence":"additional","affiliation":[{"name":"Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust , Exeter, EX2 5DW , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hana Lango","family":"Allen","sequence":"additional","affiliation":[{"name":"MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge , Cambridge, CB2 0SL , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily P","family":"Yu","sequence":"additional","affiliation":[{"name":"Zebrafish Genetics and Disease Models Core Facility, The Hospital for Sick Children , Toronto, ON M5G 0A4 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramil","family":"Noche","sequence":"additional","affiliation":[{"name":"Zebrafish Genetics and Disease Models Core Facility, The Hospital for Sick Children , Toronto, ON M5G 0A4 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzi","family":"Walker","sequence":"additional","affiliation":[{"name":"The Centre for Applied Genomics, Genetics, and Genome Biology, The Hospital for Sick Children , Toronto, ON M5G 0A4 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8326-1999","authenticated-orcid":false,"given":"Stephen W","family":"Scherer","sequence":"additional","affiliation":[{"name":"Genetics and Genome Biology, Research Institute, The Hospital for Sick Children , Toronto, ON M5G 0A4 , Canada"},{"name":"The Centre for Applied Genomics, Genetics, and Genome Biology, The Hospital for Sick Children , Toronto, ON M5G 0A4 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonal","family":"Mahida","sequence":"additional","affiliation":[{"name":"Epilepsy Genetics Program, Department of Neurology, Boston Children\u2019s Hospital , Boston, MA 02115 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher M","family":"Elitt","sequence":"additional","affiliation":[{"name":"Fetal-Neonatal Neurology Program, Department of Neurology, Boston Children\u2019s Hospital , Boston, MA 02115 , USA"},{"name":"F.M. 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