{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T13:13:39Z","timestamp":1791983619659,"version":"4.4.0"},"reference-count":66,"publisher":"eLife Sciences Publications, Ltd","license":[{"start":{"date-parts":[[2023,1,3]],"date-time":"2023-01-03T00:00:00Z","timestamp":1672704000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2023,1,3]],"date-time":"2023-01-03T00:00:00Z","timestamp":1672704000000},"content-version":"am","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2023,1,3]],"date-time":"2023-01-03T00:00:00Z","timestamp":1672704000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007137","name":"Texas Children's Hospital","doi-asserted-by":"crossref","award":["Main Street America Fund"],"award-info":[{"award-number":["Main Street America Fund"]}],"id":[{"id":"10.13039\/100007137","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"crossref","award":["R01NS100893"],"award-info":[{"award-number":["R01NS100893"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health","doi-asserted-by":"crossref","award":["R01MH117089"],"award-info":[{"award-number":["R01MH117089"]}],"id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["elifesciences.org"],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2022,12,30]]},"abstract":"<jats:p>\n                    <jats:italic>UBE3A<\/jats:italic>\n                    encodes ubiquitin protein ligase E3A, and in neurons its expression from the paternal allele is repressed by the\n                    <jats:italic>UBE3A<\/jats:italic>\n                    antisense transcript (\n                    <jats:italic>UBE3A-ATS<\/jats:italic>\n                    ). This leaves neurons susceptible to loss-of-function of maternal\n                    <jats:italic>UBE3A<\/jats:italic>\n                    . Indeed, Angelman syndrome, a severe neurodevelopmental disorder, is caused by maternal\n                    <jats:italic>UBE3A<\/jats:italic>\n                    deficiency. A promising therapeutic approach to treating Angelman syndrome is to reactivate the intact paternal\n                    <jats:italic>UBE3A<\/jats:italic>\n                    by suppressing\n                    <jats:italic>UBE3A-ATS<\/jats:italic>\n                    . Prior studies show that many neurological phenotypes of maternal\n                    <jats:italic>Ube3a<\/jats:italic>\n                    knockout mice can only be rescued by reinstating\n                    <jats:italic>Ube3a<\/jats:italic>\n                    expression in early development, indicating a restricted therapeutic window for Angelman syndrome. Here, we report that reducing\n                    <jats:italic>Ube3a-ATS<\/jats:italic>\n                    by antisense oligonucleotides in juvenile or adult maternal\n                    <jats:italic>Ube3a<\/jats:italic>\n                    knockout mice rescues the abnormal electroencephalogram (EEG) rhythms and sleep disturbance, two prominent clinical features of Angelman syndrome. Importantly, the degree of phenotypic improvement correlates with the increase of Ube3a protein levels. These results indicate that the therapeutic window of genetic therapies for Angelman syndrome is broader than previously thought, and EEG power spectrum and sleep architecture should be used to evaluate the clinical efficacy of therapies.\n                  <\/jats:p>","DOI":"10.7554\/elife.81892","type":"journal-article","created":{"date-parts":[[2023,1,3]],"date-time":"2023-01-03T08:00:19Z","timestamp":1672732819000},"update-policy":"https:\/\/doi.org\/10.7554\/elife.81892","source":"Crossref","is-referenced-by-count":34,"title":["Antisense oligonucleotide therapy rescues disturbed brain rhythms and sleep in juvenile and adult mouse models of Angelman syndrome"],"prefix":"10.7554","volume":"12","author":[{"given":"Dongwon","family":"Lee","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/02pttbw34","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Neuroscience, Baylor College of Medicine","place":["Houston, United States"]},{"id":[{"id":"https:\/\/ror.org\/05cz92x43","id-type":"ROR","asserted-by":"publisher"}],"name":"The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children\u2019s Hospital","place":["Houston, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7400-0519","authenticated-orcid":true,"given":"Wu","family":"Chen","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/02pttbw34","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Neuroscience, Baylor College of Medicine","place":["Houston, United States"]},{"id":[{"id":"https:\/\/ror.org\/05cz92x43","id-type":"ROR","asserted-by":"publisher"}],"name":"The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children\u2019s Hospital","place":["Houston, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heet Naresh","family":"Kaku","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/02pttbw34","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Neuroscience, Baylor College of Medicine","place":["Houston, United States"]},{"id":[{"id":"https:\/\/ror.org\/05cz92x43","id-type":"ROR","asserted-by":"publisher"}],"name":"The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children\u2019s Hospital","place":["Houston, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinming","family":"Zhuo","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/02pttbw34","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Molecular and Human Genetics, Baylor College of Medicine","place":["Houston, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugene S","family":"Chao","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/02pttbw34","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Neuroscience, Baylor College of Medicine","place":["Houston, United States"]},{"id":[{"id":"https:\/\/ror.org\/05cz92x43","id-type":"ROR","asserted-by":"publisher"}],"name":"The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children\u2019s Hospital","place":["Houston, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Armand","family":"Soriano","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/00t8bew53","id-type":"ROR","asserted-by":"publisher"}],"name":"Ionis Pharmaceuticals","place":["Carlsbad, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allen","family":"Kuncheria","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/02pttbw34","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Neuroscience, Baylor College of Medicine","place":["Houston, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Flores","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/02pttbw34","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Neuroscience, Baylor College of Medicine","place":["Houston, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joo Hyun","family":"Kim","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/02pttbw34","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Neuroscience, Baylor College of Medicine","place":["Houston, United States"]},{"id":[{"id":"https:\/\/ror.org\/05cz92x43","id-type":"ROR","asserted-by":"publisher"}],"name":"The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children\u2019s Hospital","place":["Houston, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7076-8566","authenticated-orcid":true,"given":"Armando","family":"Rivera","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/02pttbw34","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Neuroscience, Baylor College of Medicine","place":["Houston, United States"]},{"id":[{"id":"https:\/\/ror.org\/05cz92x43","id-type":"ROR","asserted-by":"publisher"}],"name":"The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children\u2019s Hospital","place":["Houston, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Rigo","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/00t8bew53","id-type":"ROR","asserted-by":"publisher"}],"name":"Ionis Pharmaceuticals","place":["Carlsbad, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paymaan","family":"Jafar-nejad","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/00t8bew53","id-type":"ROR","asserted-by":"publisher"}],"name":"Ionis Pharmaceuticals","place":["Carlsbad, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arthur L","family":"Beaudet","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/02pttbw34","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Molecular and Human Genetics, Baylor College of Medicine","place":["Houston, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew S","family":"Caudill","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/02pttbw34","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Neuroscience, Baylor College of Medicine","place":["Houston, United States"]},{"id":[{"id":"https:\/\/ror.org\/05cz92x43","id-type":"ROR","asserted-by":"publisher"}],"name":"Jan and Dan Duncan Neurological Research Institute at Texas Children\u2019s Hospital","place":["Houston, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1463-8884","authenticated-orcid":true,"given":"Mingshan","family":"Xue","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/02pttbw34","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Neuroscience, Baylor College of Medicine","place":["Houston, United States"]},{"id":[{"id":"https:\/\/ror.org\/05cz92x43","id-type":"ROR","asserted-by":"publisher"}],"name":"The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children\u2019s Hospital","place":["Houston, United States"]},{"id":[{"id":"https:\/\/ror.org\/02pttbw34","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Molecular and Human Genetics, Baylor College of Medicine","place":["Houston, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"4374","published-online":{"date-parts":[[2023,1,3]]},"reference":[{"key":"bib1","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1038\/ng0997-75","article-title":"Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons","volume":"17","author":"Albrecht","year":"1997","journal-title":"Nature Genetics"},{"key":"bib2","doi-asserted-by":"publisher","DOI":"10.3389\/fcomp.2022.777728","article-title":"LABKIT: labeling and segmentation toolkit for big image data","volume":"4","author":"Arzt","year":"2022","journal-title":"Frontiers in Computer Science"},{"key":"bib3","doi-asserted-by":"publisher","first-page":"1235","DOI":"10.1038\/s41593-019-0425-0","article-title":"Loss of nuclear Ube3a causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome","volume":"22","author":"Avagliano Trezza","year":"2019","journal-title":"Nature Neuroscience"},{"key":"bib4","doi-asserted-by":"publisher","first-page":"93","DOI":"10.2147\/TACG.S57386","article-title":"Angelman syndrome: review of clinical and molecular aspects","volume":"7","author":"Bird","year":"2014","journal-title":"The Application of Clinical Genetics"},{"key":"bib5","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-08825-x","article-title":"Strain-dependence of the angelman syndrome phenotypes in UBE3A maternal deficiency mice","volume":"7","author":"Born","year":"2017","journal-title":"Scientific Reports"},{"key":"bib6","doi-asserted-by":"publisher","DOI":"10.1523\/ENEURO.0345-20.2020","article-title":"Early developmental EEG and seizure phenotypes in a full gene deletion of ubiquitin protein ligase E3A rat model of Angelman syndrome","volume":"8","author":"Born","year":"2021","journal-title":"ENeuro"},{"key":"bib7","doi-asserted-by":"publisher","first-page":"584","DOI":"10.1038\/nrneurol.2016.133","article-title":"Angelman syndrome-insights into a rare neurogenetic disorder","volume":"12","author":"Buiting","year":"2016","journal-title":"Nature Reviews Neurology"},{"key":"bib8","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.48705","article-title":"STXBP1\/munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy","volume":"9","author":"Chen","year":"2020","journal-title":"eLife"},{"key":"bib9","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1016\/j.nbd.2005.04.003","article-title":"Sleep disturbances in UBE3A maternal-deficient mice modeling Angelman syndrome","volume":"20","author":"Colas","year":"2005","journal-title":"Neurobiology of Disease"},{"key":"bib10","doi-asserted-by":"publisher","first-page":"1535","DOI":"10.1007\/s13311-021-01082-x","article-title":"Emerging gene and small molecule therapies for the neurodevelopmental disorder Angelman syndrome","volume":"18","author":"Copping","year":"2021","journal-title":"Neurotherapeutics"},{"key":"bib11","doi-asserted-by":"publisher","DOI":"10.1186\/s13229-021-00416-y","article-title":"Abnormal electrophysiological phenotypes and sleep deficits in a mouse model of angelman syndrome","volume":"12","author":"Copping","year":"2021","journal-title":"Molecular Autism"},{"key":"bib12","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0027221","article-title":"Adeno-associated virus-mediated rescue of the cognitive defects in a mouse model for angelman syndrome","volume":"6","author":"Daily","year":"2011","journal-title":"PLOS ONE"},{"key":"bib13","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1093\/hmg\/ddm288","article-title":"The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology","volume":"17","author":"Dindot","year":"2008","journal-title":"Human Molecular Genetics"},{"key":"bib14","doi-asserted-by":"publisher","first-page":"13587","DOI":"10.1523\/JNEUROSCI.2194-15.2015","article-title":"Maternal Ube3a loss disrupts sleep homeostasis but leaves circadian rhythmicity largely intact","volume":"35","author":"Ehlen","year":"2015","journal-title":"The Journal of Neuroscience"},{"key":"bib15","doi-asserted-by":"publisher","first-page":"802","DOI":"10.1111\/dmcn.14831","article-title":"Ube3A reinstatement as a disease-modifying therapy for Angelman syndrome","volume":"63","author":"Elgersma","year":"2021","journal-title":"Developmental Medicine and Child Neurology"},{"key":"bib16","doi-asserted-by":"publisher","first-page":"752","DOI":"10.1016\/j.biopsych.2019.01.008","article-title":"Electrophysiological phenotype in Angelman syndrome differs between genotypes","volume":"85","author":"Frohlich","year":"2019","journal-title":"Biological Psychiatry"},{"key":"bib17","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0124649","article-title":"Toward a broader view of Ube3a in a mouse model of Angelman syndrome: expression in brain, spinal cord, sciatic nerve and glial cells","volume":"10","author":"Grier","year":"2015","journal-title":"PLOS ONE"},{"key":"bib18","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1172\/JCI120816","article-title":"Ube3A reinstatement mitigates epileptogenesis in Angelman syndrome model mice","volume":"129","author":"Gu","year":"2019","journal-title":"The Journal of Clinical Investigation"},{"key":"bib19","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1136\/jmedgenet-2012-101367","article-title":"Mutation of HERC2 causes developmental delay with angelman-like features","volume":"50","author":"Harlalka","year":"2013","journal-title":"Journal of Medical Genetics"},{"key":"bib20","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1016\/j.bpsgos.2021.05.003","article-title":"Electrophysiological abnormalities in Angelman syndrome correlate with symptom severity","volume":"1","author":"Hipp","year":"2021","journal-title":"Biological Psychiatry Global Open Science"},{"key":"bib21","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1038\/nature10726","article-title":"Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons","volume":"481","author":"Huang","year":"2011","journal-title":"Nature"},{"key":"bib22","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1016\/j.bbr.2012.12.052","article-title":"Behavioral deficits in an angelman syndrome model: effects of genetic background and age","volume":"243","author":"Huang","year":"2013","journal-title":"Behavioural Brain Research"},{"key":"bib23","doi-asserted-by":"publisher","first-page":"799","DOI":"10.1016\/s0896-6273(00)80596-6","article-title":"Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation","volume":"21","author":"Jiang","year":"1998","journal-title":"Neuron"},{"key":"bib24","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0012278","article-title":"Altered ultrasonic vocalization and impaired learning and memory in angelman syndrome mouse model with a large maternal deletion from ube3a to gabrb3","volume":"5","author":"Jiang","year":"2010","journal-title":"PLOS ONE"},{"key":"bib25","doi-asserted-by":"publisher","first-page":"1874","DOI":"10.1002\/cne.23507","article-title":"Allelic specificity of Ube3a expression in the mouse brain during postnatal development","volume":"522","author":"Judson","year":"2014","journal-title":"The Journal of Comparative Neurology"},{"key":"bib26","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1016\/j.neuron.2016.02.040","article-title":"GABAergic neuron-specific loss of ube3a causes angelman syndrome-like EEG abnormalities and enhances seizure susceptibility","volume":"90","author":"Judson","year":"2016","journal-title":"Neuron"},{"key":"bib27","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.144712","article-title":"Dual-isoform hube3a gene transfer improves behavioral and seizure outcomes in angelman syndrome model mice","volume":"6","author":"Judson","year":"2021","journal-title":"JCI Insight"},{"key":"bib28","article-title":"Angelman","volume-title":"Software Heritage","author":"Kaku","year":"2022","unstructured":"Kaku HN. 2022. Angelman. Software Heritage. swh:1:rev:a8e5152b011de54a1d2b3ea468a07fe7e2345c5f. https:\/\/archive.softwareheritage.org\/swh:1:dir:2d3231723e548baba4dba569ce4577cb998f0935;origin=https:\/\/github.com\/heetkaku\/angelman;visit=swh:1:snp:3a4d5dc43783ea112e7bf08de6980660b66ccfba;anchor=swh:1:rev:a8e5152b011de54a1d2b3ea468a07fe7e2345c5f."},{"key":"bib29","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1038\/ng0197-70","article-title":"UBE3A\/E6-AP mutations cause Angelman syndrome","volume":"15","author":"Kishino","year":"1997","journal-title":"Nature Genetics"},{"key":"bib30","doi-asserted-by":"publisher","first-page":"19410","DOI":"10.1074\/jbc.M110.205211","article-title":"Physical and functional interaction of the HECT ubiquitin-protein ligases E6AP and HERC2","volume":"286","author":"K\u00fchnle","year":"2011","journal-title":"The Journal of Biological Chemistry"},{"key":"bib31","doi-asserted-by":"publisher","first-page":"5129","DOI":"10.1073\/pnas.1504809112","article-title":"Seizure-like activity in a juvenile angelman syndrome mouse model is attenuated by reducing ARC expression","volume":"112","author":"Mandel-Brehm","year":"2015","journal-title":"PNAS"},{"key":"bib32","doi-asserted-by":"publisher","first-page":"641","DOI":"10.1007\/s13311-015-0361-y","article-title":"Angelman syndrome","volume":"12","author":"Margolis","year":"2015","journal-title":"Neurotherapeutics"},{"key":"bib33","doi-asserted-by":"publisher","first-page":"709","DOI":"10.1080\/13543784.2021.1939674","article-title":"Therapies in preclinical and clinical development for Angelman syndrome","volume":"30","author":"Markati","year":"2021","journal-title":"Expert Opinion on Investigational Drugs"},{"key":"bib34","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1038\/ng0197-74","article-title":"De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (Ube3a) in Angelman syndrome","volume":"15","author":"Matsuura","year":"1997","journal-title":"Nature Genetics"},{"key":"bib35","doi-asserted-by":"publisher","first-page":"3001","DOI":"10.1093\/hmg\/dds130","article-title":"Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a","volume":"21","author":"Meng","year":"2012","journal-title":"Human Molecular Genetics"},{"key":"bib36","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1004039","article-title":"Truncation of UBE3A-ATS unsilences paternal UBE3A and ameliorates behavioral defects in the angelman syndrome mouse model","volume":"9","author":"Meng","year":"2013","journal-title":"PLOS Genetics"},{"key":"bib37","doi-asserted-by":"publisher","first-page":"409","DOI":"10.1038\/nature13975","article-title":"Towards a therapy for Angelman syndrome by targeting a long non-coding RNA","volume":"518","author":"Meng","year":"2015","journal-title":"Nature"},{"key":"bib38","doi-asserted-by":"publisher","first-page":"938","DOI":"10.1016\/j.clinph.2003.11.004","article-title":"Sleep polygraphy in Angelman syndrome","volume":"115","author":"Miano","year":"2004","journal-title":"Clinical Neurophysiology"},{"key":"bib39","doi-asserted-by":"publisher","first-page":"2685","DOI":"10.1016\/j.clinph.2005.08.005","article-title":"Sleep breathing and periodic leg movement pattern in Angelman syndrome: a polysomnographic study","volume":"116","author":"Miano","year":"2005","journal-title":"Clinical Neurophysiology"},{"key":"bib40","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1523\/JNEUROSCI.2509-12.2013","article-title":"The Angelman syndrome protein Ube3a is required for polarized dendrite morphogenesis in pyramidal neurons","volume":"33","author":"Miao","year":"2013","journal-title":"The Journal of Neuroscience"},{"key":"bib41","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1006968","article-title":"Spindle: end-to-end learning from EEG\/EMG to extrapolate animal sleep scoring across experimental settings, labs and species","volume":"15","author":"Miladinovi\u0107","year":"2019","journal-title":"PLOS Computational Biology"},{"key":"bib42","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.145991","article-title":"Antisense oligonucleotide treatment rescues ube3a expression and multiple phenotypes of an angelman syndrome mouse model","volume":"6","author":"Milazzo","year":"2021","journal-title":"JCI Insight"},{"key":"bib43","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1006\/nbdi.2001.0463","article-title":"Neurobehavioral and electroencephalographic abnormalities in ube3a maternal-deficient mice","volume":"9","author":"Miura","year":"2002","journal-title":"Neurobiology of Disease"},{"key":"bib44","doi-asserted-by":"publisher","first-page":"483","DOI":"10.1212\/WNL.0000000000003565","article-title":"Mutations in GABRB3: from febrile seizures to epileptic encephalopathies","volume":"88","author":"M\u00f8ller","year":"2017","journal-title":"Neurology"},{"key":"bib45","doi-asserted-by":"publisher","first-page":"1433","DOI":"10.1002\/acn3.51385","article-title":"Delta power robustly predicts cognitive function in Angelman syndrome","volume":"8","author":"Ostrowski","year":"2021","journal-title":"Annals of Clinical and Translational Neurology"},{"key":"bib46","doi-asserted-by":"publisher","first-page":"1639","DOI":"10.1002\/humu.22237","article-title":"A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder","volume":"33","author":"Puffenberger","year":"2012","journal-title":"Human Mutation"},{"key":"bib47","doi-asserted-by":"publisher","first-page":"8011","DOI":"10.1523\/JNEUROSCI.0083-18.2018","article-title":"Adult ube3a gene reinstatement restores the electrophysiological deficits of prefrontal cortex layer 5 neurons in a mouse model of angelman syndrome","volume":"38","author":"Rotaru","year":"2018","journal-title":"The Journal of Neuroscience"},{"key":"bib48","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1016\/j.neuroscience.2020.02.017","article-title":"Angelman syndrome: from mouse models to therapy","volume":"445","author":"Rotaru","year":"2020","journal-title":"Neuroscience"},{"key":"bib49","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1038\/ng0997-14","article-title":"The Angelman syndrome candidate gene, UBE3A\/E6-AP, is imprinted in brain","volume":"17","author":"Rougeulle","year":"1997","journal-title":"Nature Genetics"},{"key":"bib50","doi-asserted-by":"publisher","DOI":"10.1172\/JCI142574","article-title":"Crispr\/Cas9 directed to the Ube3a antisense transcript improves Angelman syndrome phenotype in mice","volume":"131","author":"Schmid","year":"2021","journal-title":"The Journal of Clinical Investigation"},{"key":"bib51","doi-asserted-by":"publisher","DOI":"10.3389\/fnbeh.2022.837523","article-title":"Circadian rhythms and sleep are dependent upon expression levels of key ubiquitin ligase Ube3a","volume":"16","author":"Shi","year":"2022","journal-title":"Frontiers in Behavioral Neuroscience"},{"key":"bib52","doi-asserted-by":"publisher","DOI":"10.1186\/s11689-017-9195-8","article-title":"Delta rhythmicity is a reliable EEG biomarker in angelman syndrome: a parallel mouse and human analysis","volume":"9","author":"Sidorov","year":"2017","journal-title":"Journal of Neurodevelopmental Disorders"},{"key":"bib53","doi-asserted-by":"publisher","first-page":"2069","DOI":"10.1172\/JCI80554","article-title":"Ube3A reinstatement identifies distinct developmental windows in a murine Angelman syndrome model","volume":"125","author":"Silva-Santos","year":"2015","journal-title":"The Journal of Clinical Investigation"},{"key":"bib54","doi-asserted-by":"publisher","DOI":"10.1186\/s13229-018-0231-7","article-title":"A behavioral test battery for mouse models of angelman syndrome: A powerful tool for testing drugs and novel ube3a mutants","volume":"9","author":"Sonzogni","year":"2018","journal-title":"Molecular Autism"},{"key":"bib55","doi-asserted-by":"publisher","DOI":"10.1186\/s13229-020-00376-9","article-title":"Assessing the requirements of prenatal ube3a expression for rescue of behavioral phenotypes in a mouse model for angelman syndrome","volume":"11","author":"Sonzogni","year":"2020","journal-title":"Molecular Autism"},{"key":"bib56","doi-asserted-by":"publisher","DOI":"10.1093\/braincomms\/fcac106","article-title":"Longitudinal EEG model detects antisense oligonucleotide treatment effect and increased Ube3a in Angelman syndrome","volume":"4","author":"Spencer","year":"2022","journal-title":"Brain Communications"},{"key":"bib57","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1016\/j.smrv.2017.01.002","article-title":"Sleep in Angelman syndrome: a review of evidence","volume":"37","author":"Spruyt","year":"2018","journal-title":"Sleep Medicine Reviews"},{"key":"bib58","doi-asserted-by":"publisher","first-page":"687","DOI":"10.1093\/nar\/gkl1071","article-title":"Antisense oligonucleotides containing locked nucleic acid improve potency but cause significant hepatotoxicity in animals","volume":"35","author":"Swayze","year":"2007","journal-title":"Nucleic Acids Research"},{"key":"bib59","doi-asserted-by":"publisher","first-page":"2634","DOI":"10.1523\/JNEUROSCI.23-07-02634.2003","article-title":"Derangements of hippocampal calcium\/calmodulin-dependent protein kinase II in a mouse model for angelman mental retardation syndrome","volume":"23","author":"Weeber","year":"2003","journal-title":"The Journal of Neuroscience"},{"key":"bib60","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1109\/TAU.1967.1161901","article-title":"The use of fast fourier transform for the estimation of power spectra: A method based on time averaging over short, modified periodograms","volume":"15","author":"Welch","year":"1967","journal-title":"IEEE Transactions on Audio and Electroacoustics"},{"key":"bib61","doi-asserted-by":"publisher","first-page":"654","DOI":"10.1007\/s10578-020-01051-z","article-title":"Measuring what matters to individuals with Angelman syndrome and their families: development of a patient-centered disease concept model","volume":"52","author":"Willgoss","year":"2021","journal-title":"Child Psychiatry and Human Development"},{"key":"bib62","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1002\/ajmg.a.31074","article-title":"Angelman syndrome 2005: updated consensus for diagnostic criteria","volume":"140","author":"Williams","year":"2006","journal-title":"American Journal of Medical Genetics. Part A"},{"key":"bib63","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1038\/s41586-020-2835-2","article-title":"Cas9 gene therapy for Angelman syndrome traps ube3a-ATS long non-coding RNA","volume":"587","author":"Wolter","year":"2020","journal-title":"Nature"},{"key":"bib64","doi-asserted-by":"publisher","first-page":"1162","DOI":"10.1002\/jnr.24576","article-title":"Towards an understanding of Angelman syndrome in mice studies","volume":"98","author":"Yang","year":"2020","journal-title":"Journal of Neuroscience Research"},{"key":"bib65","doi-asserted-by":"publisher","first-page":"777","DOI":"10.1038\/nn.2327","article-title":"Ube3a is required for experience-dependent maturation of the neocortex","volume":"12","author":"Yashiro","year":"2009","journal-title":"Nature Neuroscience"},{"key":"bib66","doi-asserted-by":"publisher","first-page":"1368","DOI":"10.1177\/01926233211046933","article-title":"Comparative milestones in rodent and human postnatal central nervous system development","volume":"49","author":"Zeiss","year":"2021","journal-title":"Toxicologic Pathology"}],"updated-by":[{"DOI":"10.7554\/elife.104349","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2024,10,15]],"date-time":"2024-10-15T00:00:00Z","timestamp":1728950400000}}],"container-title":["eLife"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/cdn.elifesciences.org\/articles\/81892\/elife-81892-v3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/cdn.elifesciences.org\/articles\/81892\/elife-81892-v3.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/elifesciences.org\/articles\/81892","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,15]],"date-time":"2024-10-15T09:40:44Z","timestamp":1728985244000},"score":1,"resource":{"primary":{"URL":"https:\/\/elifesciences.org\/articles\/81892"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1,3]]},"references-count":66,"alternative-id":["10.7554\/eLife.81892"],"URL":"https:\/\/doi.org\/10.7554\/elife.81892","archive":["CLOCKSS"],"relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2022.06.18.496687","asserted-by":"subject"}],"is-supplemented-by":[{"id-type":"uri","id":"https:\/\/archive.softwareheritage.org\/swh:1:dir:2d3231723e548baba4dba569ce4577cb998f0935;origin=https:\/\/github.com\/heetkaku\/angelman;visit=swh:1:snp:3a4d5dc43783ea112e7bf08de6980660b66ccfba;anchor=swh:1:rev:a8e5152b011de54a1d2b3ea468a07fe7e2345c5f","asserted-by":"subject"}],"has-review":[{"id-type":"doi","id":"10.7554\/eLife.81892.sa2","asserted-by":"object"},{"id-type":"doi","id":"10.7554\/eLife.81892.sa0","asserted-by":"object"},{"id-type":"doi","id":"10.7554\/eLife.81892.sa1","asserted-by":"object"}]},"ISSN":["2050-084X"],"issn-type":[{"value":"2050-084X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,1,3]]},"assertion":[{"value":"single anonymised","name":"peer_review_transparency","label":"Peer review transparency","group":{"name":"peer_review_taxonomy"}},{"value":"other reviewer(s), editor","name":"peer_review_interaction","label":"Peer review interaction","group":{"name":"peer_review_taxonomy"}},{"value":"review summaries, review reports, author\/editor communication, reviewer identities reviewer opt in, editor identities","name":"peer_review_published","label":"Peer review published","group":{"name":"peer_review_taxonomy"}},{"value":"open (sign in with ORCID iD required)","name":"post_publication_commenting","label":"Post publication commenting","group":{"name":"post_publication_commenting"}}],"article-number":"e81892"}}