{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T17:39:13Z","timestamp":1776188353104,"version":"3.50.1"},"reference-count":51,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,4,26]],"date-time":"2023-04-26T00:00:00Z","timestamp":1682467200000},"content-version":"am","delay-in-days":333,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#am"},{"start":{"date-parts":[[2022,5,28]],"date-time":"2022-05-28T00:00:00Z","timestamp":1653696000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100005331","name":"American Brain Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005331","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001819","name":"International Rett Syndrome Foundation","doi-asserted-by":"publisher","award":["IRSF grant #3701\u20101"],"award-info":[{"award-number":["IRSF grant #3701\u20101"]}],"id":[{"id":"10.13039\/100001819","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["512848"],"award-info":[{"award-number":["512848"]}],"id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["873841"],"award-info":[{"award-number":["873841"]}],"id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R01NS106298"],"award-info":[{"award-number":["R01NS106298"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R35NS105078"],"award-info":[{"award-number":["R35NS105078"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NIH T32 GM007526\u201042"],"award-info":[{"award-number":["NIH T32 GM007526\u201042"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["T32 NS043124\u201019"],"award-info":[{"award-number":["T32 NS043124\u201019"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01DK108894"],"award-info":[{"award-number":["R01DK108894"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R21CA164970"],"award-info":[{"award-number":["R21CA164970"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100017026","name":"Spastic Paraplegia Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100017026","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008732","name":"Uehara Memorial Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008732","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010659","name":"Erasmus Universitair Medisch Centrum Rotterdam","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000874","name":"Brain and Behavior Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000874","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["HG008986"],"award-info":[{"award-number":["HG008986"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["K08"],"award-info":[{"award-number":["K08"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008732","name":"Uehara Memorial Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008732","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012256","name":"Cerebral Palsy Alliance Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012256","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000233","name":"Genome British Columbia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000233","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010787","name":"Genome Alberta","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010787","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["MFE\u2010176616"],"award-info":[{"award-number":["MFE\u2010176616"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000092","name":"Ontario Genomics Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000092","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008762","name":"Genome Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008762","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["K08 HG008986"],"award-info":[{"award-number":["K08 HG008986"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["U54HG003273"],"award-info":[{"award-number":["U54HG003273"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["UM1 HG006542"],"award-info":[{"award-number":["UM1 HG006542"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000005","name":"U.S. Department of Defense","doi-asserted-by":"publisher","award":["W81XWH\u201016\u20100464"],"award-info":[{"award-number":["W81XWH\u201016\u20100464"]}],"id":[{"id":"10.13039\/100000005","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2022,8]]},"abstract":"Objective<\/jats:title>Human genomics established that pathogenic variation in diverse genes can underlie a single disorder. For example, hereditary spastic paraplegia is associated with >80 genes, with frequently only few affected individuals described for each gene. Herein, we characterize a large cohort of individuals with biallelic variation in ENTPD1<\/jats:italic>, a gene previously linked to spastic paraplegia 64 (Mendelian Inheritance in Man # 615683).<\/jats:p><\/jats:sec>Methods<\/jats:title>Individuals with biallelic ENTPD1<\/jats:italic> variants were recruited worldwide. Deep phenotyping and molecular characterization were performed.<\/jats:p><\/jats:sec>Results<\/jats:title>A total of 27 individuals from 17 unrelated families were studied; additional phenotypic information was collected from published cases. Twelve novel pathogenic ENTPD1<\/jats:italic> variants are described (NM 001776.6): c.398_399delinsAA; p.(Gly133Glu), c.540del; p.(Thr181Leufs*18), c.640del; p.(Gly216Glufs*75), c.185\u2009T\u2009>\u2009G; p.(Leu62*), c.1531\u2009T\u2009>\u2009C; p.(*511Glnext*100), c.967C\u2009>\u2009T; p.(Gln323*), c.414\u20102_414\u20101del, and c.146 A\u2009>\u2009G; p.(Tyr49Cys) including 4 recurrent variants c.1109\u2009T\u2009>\u2009A; p.(Leu370*), c.574\u20106_574\u20103del, c.770_771del; p.(Gly257Glufs*18), and c.1041del; p.(Ile348Phefs*19). Shared disease traits include childhood onset, progressive spastic paraplegia, intellectual disability (ID), dysarthria, and white matter abnormalities. In vitro<\/jats:italic> assays demonstrate that ENTPD1<\/jats:italic> expression and function are impaired and that c.574\u20106_574\u20103del causes exon skipping. Global metabolomics demonstrate ENTPD1<\/jats:italic> deficiency leads to impaired nucleotide, lipid, and energy metabolism.<\/jats:p><\/jats:sec>Interpretation<\/jats:title>The ENTPD1<\/jats:italic> locus trait consists of childhood disease onset, ID, progressive spastic paraparesis, dysarthria, dysmorphisms, and white matter abnormalities, with some individuals showing neurocognitive regression. Investigation of an allelic series of ENTPD1<\/jats:italic> (1) expands previously described features of ENTPD1<\/jats:italic>\u2010related neurological disease, (2) highlights the importance of genotype\u2010driven deep phenotyping, (3) documents the need for global collaborative efforts to characterize rare autosomal recessive disease traits, and (4) provides insights into disease trait neurobiology. ANN NEUROL 2022;92:304\u2013321<\/jats:p><\/jats:sec>","DOI":"10.1002\/ana.26381","type":"journal-article","created":{"date-parts":[[2022,4,26]],"date-time":"2022-04-26T18:39:49Z","timestamp":1650998389000},"page":"304-321","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Biallelic Variants in the Ectonucleotidase ENTPD1<\/i><\/scp> Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia"],"prefix":"10.1002","volume":"92","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6860-372X","authenticated-orcid":false,"given":"Daniel G.","family":"Calame","sequence":"first","affiliation":[{"name":"Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics Baylor College of Medicine Houston TX USA"},{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA"},{"name":"Texas Children's Hospital Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7359-6832","authenticated-orcid":false,"given":"Isabella","family":"Herman","sequence":"additional","affiliation":[{"name":"Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics Baylor College of Medicine Houston TX USA"},{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA"},{"name":"Texas Children's Hospital Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reza","family":"Maroofian","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disorders Queen Square Institute of Neurology, University College London London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aren E.","family":"Marshall","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute University of Ottawa Ottawa Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karina Carvalho","family":"Donis","sequence":"additional","affiliation":[{"name":"Graduate Program in Genetics and Molecular Biology Federal University of Rio Grande do Sul Porto Alegre Brazil"},{"name":"Medical Genetics Service Porto Alegre Clinical Hospital Porto Alegre Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jawid M.","family":"Fatih","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tadahiro","family":"Mitani","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haowei","family":"Du","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3884-7720","authenticated-orcid":false,"given":"Christopher M.","family":"Grochowski","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergio B.","family":"Sousa","sequence":"additional","affiliation":[{"name":"University Clinic of Genetics, Faculty of Medicine, Universidade de Coimbra Coimbra Portugal"},{"name":"Medical Genetics Unit, Hospital Pediatrico, Centro Hospitalar e Universitario de Coimbra Coimbra Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charul","family":"Gijavanekar","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Somayeh","family":"Bakhtiari","sequence":"additional","affiliation":[{"name":"Pediatric Movement Disorders Program, Division of Pediatric Neurology Barrow Neurological Institute, Phoenix Children's Hospital Phoenix AZ USA"},{"name":"Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics University of Arizona College of Medicine\u2013Phoenix Phoenix AZ USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoko A.","family":"Ito","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute University of Ottawa Ottawa Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clarissa","family":"Rocca","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disorders Queen Square Institute of Neurology, University College London London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jill V.","family":"Hunter","sequence":"additional","affiliation":[{"name":"Texas Children's Hospital Houston TX USA"},{"name":"Division of Neuroradiology, Edward B. Singleton Department of Radiology Texas Children's Hospital Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6450-8554","authenticated-orcid":false,"given":"V. Reid","family":"Sutton","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA"},{"name":"Texas Children's Hospital Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa T.","family":"Emrick","sequence":"additional","affiliation":[{"name":"Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics Baylor College of Medicine Houston TX USA"},{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA"},{"name":"Texas Children's Hospital Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kym M.","family":"Boycott","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute University of Ottawa Ottawa Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander","family":"Lossos","sequence":"additional","affiliation":[{"name":"Department of Neurology Hadassah Medical Organization and Faculty of Medicine, Hebrew University Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yakov","family":"Fellig","sequence":"additional","affiliation":[{"name":"Department of Pathology Hadassah Medical Organization and Faculty of Medicine, Hebrew University Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eugenia","family":"Prus","sequence":"additional","affiliation":[{"name":"Hematology and Bone Marrow Transplantation Division Hadassah Medical Center and Hebrew University Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yosef","family":"Kalish","sequence":"additional","affiliation":[{"name":"Hematology and Bone Marrow Transplantation Division Hadassah Medical Center and Hebrew University Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vardiella","family":"Meiner","sequence":"additional","affiliation":[{"name":"Department of Genetics Hadassah Medical Center and Hebrew University Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manon","family":"Suerink","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Leiden University Medical Center Leiden the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Ruivenkamp","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Leiden University Medical Center Leiden the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kayla","family":"Muirhead","sequence":"additional","affiliation":[{"name":"Division of Neurology Children's Hospital of Philadelphia, Abramson Research Center Philadelphia PA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nebal W.","family":"Saadi","sequence":"additional","affiliation":[{"name":"College of Medicine\/University of Baghdad Unit of Pediatric Neurology, Children Welfare Teaching Hospital Baghdad Iraq"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maha S.","family":"Zaki","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department Human Genetics and Genome Research Institute, Center of Excellence of Human Genetics, National Research Centre Cairo Dokki Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arjan","family":"Bouman","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus University Medical Center Rotterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1231-1562","authenticated-orcid":false,"given":"Tahsin Stefan","family":"Barakat","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus University Medical Center Rotterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David L.","family":"Skidmore","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Dalhousie University Halifax Nova Scotia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5886-873X","authenticated-orcid":false,"given":"Matthew","family":"Osmond","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute University of Ottawa Ottawa Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thiago Oliveira","family":"Silva","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Porto Alegre Clinical Hospital Porto Alegre Brazil"},{"name":"Postgraduate Program in Medicine: Medical Sciences Federal University of Rio Grande do Sul Porto Alegre Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Murphy","sequence":"additional","affiliation":[{"name":"Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology, University College London London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ehsan Ghayoor","family":"Karimiani","sequence":"additional","affiliation":[{"name":"Genetics Section Molecular and Clinical Sciences Institute, St George's University of London London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yalda","family":"Jamshidi","sequence":"additional","affiliation":[{"name":"Genetics Section Molecular and Clinical Sciences Institute, St George's University of London London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asaad Ghanim","family":"Jaddoa","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Children Welfare Teaching Hospital Baghdad Iraq"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8854-5213","authenticated-orcid":false,"given":"Homa","family":"Tajsharghi","sequence":"additional","affiliation":[{"name":"School of Health Sciences, Division Biomedicine University of Sk\u00f6vde Sk\u00f6vde Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheng Chih","family":"Jin","sequence":"additional","affiliation":[{"name":"Department of Genetics Washington University School of Medicine St Louis MO USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad Reza","family":"Abbaszadegan","sequence":"additional","affiliation":[{"name":"Medical Genetics Research Center Medical School, Mashhad University of Medical Sciences Mashhad Iran"},{"name":"Pardis Pathobiology and Genetics Laboratory Mashhad Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reza","family":"Ebrahimzadeh\u2010Vesal","sequence":"additional","affiliation":[{"name":"Pardis Pathobiology and Genetics Laboratory Mashhad Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan","family":"Hosseini","sequence":"additional","affiliation":[{"name":"Pardis Pathobiology and Genetics Laboratory Mashhad Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3484-3423","authenticated-orcid":false,"given":"Shahryar","family":"Alavi","sequence":"additional","affiliation":[{"name":"Department of Cell and Molecular Biology & Microbiology Faculty of Biological Science and Technology, University of Isfahan Isfahan Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2410-6833","authenticated-orcid":false,"given":"Amir","family":"Bahreini","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Graduate School of Public Health, University of Pittsburgh Pittsburgh PA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elahe","family":"Zarean","sequence":"additional","affiliation":[{"name":"Department of Perinatology Isfahan University of Medical Sciences Isfahan Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad Mehdi","family":"Salehi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Isfahan University of Medical Sciences Isfahan Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nouriya Abbas","family":"Al\u2010Sannaa","sequence":"additional","affiliation":[{"name":"Pediatric Services John Hopkins Aramco Health Care Dhahran Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Zifarelli","sequence":"additional","affiliation":[{"name":"Centogene GmbH Rostock Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Bauer","sequence":"additional","affiliation":[{"name":"Centogene GmbH Rostock Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simon C.","family":"Robson","sequence":"additional","affiliation":[{"name":"Center for Inflammation Research, Transplantation, Departments of Medicine and Anesthesia Beth Israel Deaconess Medical Center, Harvard Medical School Boston MA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zeynep","family":"Coban\u2010Akdemir","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA"},{"name":"Human Genetics Center, Department of Epidemiology Human Genetics, and Environmental Sciences, School of Public Health, University of Texas Health Science Center at Houston Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorena","family":"Travaglini","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences Bambino Ges\u00f9 Children's Hospital, Scientific Institute for Research and Health Care Rome Italy"},{"name":"Laboratory of Molecular Medicine, Department of Neuroscience Bambino Ges\u00f9 Children's Hospital, Scientific Institute for Research and Health Care Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Nicita","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences Bambino Ges\u00f9 Children's Hospital, Scientific Institute for Research and Health Care Rome Italy"},{"name":"Laboratory of Molecular Medicine, Department of Neuroscience Bambino Ges\u00f9 Children's Hospital, Scientific Institute for Research and Health Care Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shalini N.","family":"Jhangiani","sequence":"additional","affiliation":[{"name":"Human Genome Sequencing Center Baylor College of Medicine Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard A.","family":"Gibbs","sequence":"additional","affiliation":[{"name":"Human Genome Sequencing Center Baylor College of Medicine Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4814-6765","authenticated-orcid":false,"given":"Jennifer E.","family":"Posey","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael C.","family":"Kruer","sequence":"additional","affiliation":[{"name":"Pediatric Movement Disorders Program, Division of Pediatric Neurology Barrow Neurological Institute, Phoenix Children's Hospital Phoenix AZ USA"},{"name":"Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics University of Arizona College of Medicine\u2013Phoenix Phoenix AZ USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristin D.","family":"Kernohan","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute University of Ottawa Ottawa Ontario Canada"},{"name":"Newborn Screening Ontario Ottawa Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonas A.","family":"Morales Saute","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Porto Alegre Clinical Hospital Porto Alegre Brazil"},{"name":"Department of Internal Medicine Federal University of Rio Grande do Sul Porto Alegre Brazil"},{"name":"Neurology Service Porto Alegre Clinical Hospital Porto Alegre Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disorders Queen Square Institute of Neurology, University College London London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adeline","family":"Vanderver","sequence":"additional","affiliation":[{"name":"Division of Neurology Children's Hospital of Philadelphia, Abramson Research Center Philadelphia PA USA"},{"name":"Department of Neurology, Perelman School of Medicine University of Pennsylvania Philadelphia PA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1400-8519","authenticated-orcid":false,"given":"Sarah H.","family":"Elsea","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5788-0270","authenticated-orcid":false,"given":"Davut","family":"Pehlivan","sequence":"additional","affiliation":[{"name":"Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics Baylor College of Medicine Houston TX USA"},{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA"},{"name":"Texas Children's Hospital Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2233-3423","authenticated-orcid":false,"given":"Dana","family":"Marafi","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA"},{"name":"Department of Pediatrics Faculty of Medicine, Kuwait University Safat Kuwait"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9907-9246","authenticated-orcid":false,"given":"James R.","family":"Lupski","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA"},{"name":"Texas Children's Hospital Houston TX USA"},{"name":"Human Genome Sequencing Center Baylor College of Medicine Houston TX USA"},{"name":"Department of Pediatrics Baylor College of Medicine Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,5,28]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1080\/14737159.2020.1826312"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2018.33"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.08.009"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000358801"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-64076-5.00041-7"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1247363"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.conb.2018.04.025"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1041143"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-013-1115-8"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.106"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(08)70258-8"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(19)30235-2"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2017.10.010"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24611"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3182106775"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41439-018-0036-4"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-018-0545-9"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1080\/01677063.2021.1895146"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01916-z"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkw1039"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2015.09.048"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-019-02109-6"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.04.005"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-015-9843-7"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/jalm\/jfz026"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-0827-0"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamanetworkopen.2021.14155"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.38.24814"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.09.027"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1322"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2019.00507"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/npp.2017.130"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10423"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24496"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-12438-5"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-0632-x"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2011.09.008"},{"key":"e_1_2_8_39_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkaa942"},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2017.148"},{"key":"e_1_2_8_41_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2777-8"},{"key":"e_1_2_8_42_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00424-006-0061-x"},{"key":"e_1_2_8_43_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11302-018-9633-4"},{"key":"e_1_2_8_44_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M109.027128"},{"key":"e_1_2_8_45_1","doi-asserted-by":"publisher","DOI":"10.1039\/C7CC00426E"},{"key":"e_1_2_8_46_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E04-10-0886"},{"key":"e_1_2_8_47_1","doi-asserted-by":"publisher","DOI":"10.1124\/jpet.111.179994"},{"key":"e_1_2_8_48_1","doi-asserted-by":"publisher","DOI":"10.1111\/imm.12798"},{"key":"e_1_2_8_49_1","doi-asserted-by":"publisher","DOI":"10.1038\/12447"},{"key":"e_1_2_8_50_1","doi-asserted-by":"publisher","DOI":"10.2337\/db07-1265"},{"key":"e_1_2_8_51_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0902869106"},{"key":"e_1_2_8_52_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000228242.53336.90"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.26381","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ana.26381","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/am-pdf\/10.1002\/ana.26381","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.26381","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T06:25:38Z","timestamp":1692685538000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.26381"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5,28]]},"references-count":51,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2022,8]]}},"alternative-id":["10.1002\/ana.26381"],"URL":"https:\/\/doi.org\/10.1002\/ana.26381","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,5,28]]},"assertion":[{"value":"2021-07-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-04-21","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-05-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}