{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T11:28:56Z","timestamp":1787311736049,"version":"build-2736575974"},"reference-count":13,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,7,29]],"date-time":"2021-07-29T00:00:00Z","timestamp":1627516800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"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\/501100000156","name":"Fonds de Recherche du Qu\u00e9bec - Sant\u00e9","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000156","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Early infantile epileptic encephalopathy 38 (EIEE38, MIM #617020) is caused by biallelic variants in\n                    <jats:italic>ARV1<\/jats:italic>\n                    , encoding a transmembrane protein of the endoplasmic reticulum with a pivotal role in glycosylphosphatidylinositol (GPI) biosynthesis. We ascertained seven new patients from six unrelated families harboring biallelic variants in\n                    <jats:italic>ARV1<\/jats:italic>\n                    , including five novel variants. Affected individuals showed psychomotor delay, hypotonia, early onset refractory seizures followed by regression and specific neuroimaging features. Flow cytometric analysis on patient fibroblasts showed a decrease in GPI\u2010anchored proteins on the cell surface, supporting a lower residual activity of the mutant ARV1 as compared to the wildtype. A rescue assay through the transduction of lentivirus expressing wild type\n                    <jats:italic>ARV1<\/jats:italic>\n                    cDNA effectively rescued these alterations. This study expands the clinical and molecular spectrum of the\n                    <jats:italic>ARV1<\/jats:italic>\n                    \u2010related encephalopathy, confirming the essential role of ARV1 in GPI biosynthesis and brain function.\n                  <\/jats:p>","DOI":"10.1111\/cge.14033","type":"journal-article","created":{"date-parts":[[2021,7,23]],"date-time":"2021-07-23T05:09:21Z","timestamp":1627016961000},"page":"607-614","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Epileptic encephalopathy caused by\n                    <scp>ARV1<\/scp>\n                    deficiency: Refinement of the genotype\u2013phenotype spectrum and functional impact on\n                    <scp>GPI<\/scp>\n                    \u2010anchored proteins"],"prefix":"10.1111","volume":"100","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4163-4889","authenticated-orcid":false,"given":"Smrithi","family":"Salian","sequence":"first","affiliation":[{"name":"CHU Sainte\u2010Justine Research Center University of Montreal  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2194-7239","authenticated-orcid":false,"given":"Marcello","family":"Scala","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health University of Genoa  Genoa Italy"},{"name":"IRCCS Istituto Giannina Gaslini  Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9572-118X","authenticated-orcid":false,"given":"Thi Tuyet Mai","family":"Nguyen","sequence":"additional","affiliation":[{"name":"CHU Sainte\u2010Justine Research Center University of Montreal  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