{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T00:45:46Z","timestamp":1789865146848,"version":"4.0.1"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T00:00:00Z","timestamp":1768953600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T00:00:00Z","timestamp":1768953600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of the Child Neurology Society"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Epilepsy with myoclonic and atonic seizures (EMAtS), also known as Doose syndrome, accounts for 1%\u20132% of childhood epilepsies, and various genes have been implicated in causing this epilepsy syndrome.\n                      <jats:italic>NUS1<\/jats:italic>\n                      encodes for Nogo\u2010B receptor (NgBR), which stabilizes the dehydrodolichyl\u2010diphosphate synthase complex in the endoplasmic reticulum, promoting its enzymatic activity (cis\u2010IPTase) and thereby regulating cholesterol biosynthesis. Pathogenic variants in\n                      <jats:italic>NUS1<\/jats:italic>\n                      have been associated with movement disorder and epilepsy; however, the spectrum of epilepsy and electroencephalogram (EEG) phenotype has not been well characterized.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We describe a single\u2010center case series of five patients with\n                      <jats:italic>NUS1<\/jats:italic>\n                      \u2010related disorder.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      In our cohort, three patients met the diagnostic criteria of EMAtS, and the remainder had a milder form of generalized epilepsy. Four patients had a pathogenic variant in\n                      <jats:italic>NUS1<\/jats:italic>\n                      on one allele, and one patient had a missense change of unclear significance but fit the phenotype of\n                      <jats:italic>NUS1<\/jats:italic>\n                      \u2010related disorder. All patients bearing the pathogenic variants in\n                      <jats:italic>NUS1<\/jats:italic>\n                      had normal to mild developmental delay at the onset of epilepsy, with normal brain magnetic resonance imaging. Age of seizure onset in these patients was 1\u20137 years, and patients responded to levetiracetam and\/or valproic acid. The EEG findings for these patients included the presence of spike and slow wave discharges, as well as the presence of generalized, invariant monomorphic theta range activity in the awake state, which was seen in four out of the five patients.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Taken together,\n                      <jats:italic>NUS1<\/jats:italic>\n                      variants are associated with generalized epilepsy phenotype and an invariant EEG pattern of monomorphic theta activity.\n                    <\/jats:p>\n                  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School of Medicine St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Morrissey","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Neurology Washington University School of Medicine St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebekah","family":"Landre","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Neurology Washington University School of Medicine St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stuart","family":"Tomko","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Neurology Washington University School of Medicine St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fumihiko","family":"Urano","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division 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