{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T16:40:14Z","timestamp":1788021614964,"version":"build-2784847793"},"reference-count":57,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,1,12]],"date-time":"2022-01-12T00:00:00Z","timestamp":1641945600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2022,1,12]],"date-time":"2022-01-12T00:00:00Z","timestamp":1641945600000},"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":["Human Mutation"],"published-print":{"date-parts":[[2022,3]]},"DOI":"10.1002\/humu.24326","type":"journal-article","created":{"date-parts":[[2022,1,6]],"date-time":"2022-01-06T12:55:26Z","timestamp":1641473726000},"page":"403-419","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Clinico\u2010radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency"],"prefix":"10.1155","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2194-7239","authenticated-orcid":false,"given":"Marcello","family":"Scala","sequence":"first","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health Universit\u00e0 Degli Studi di Genova Genoa Italy"},{"name":"Pediatric Neurology and Muscular Diseases Unit IRCCS Istituto Giannina Gaslini Genoa Italy"},{"name":"UCL Queen Square Institute of Neurology University College London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1968-8103","authenticated-orcid":false,"given":"Saskia B.","family":"Wortmann","sequence":"additional","affiliation":[{"name":"Amalia Children's Hospital Radboud University Nijmegen Nijmegen The Netherlands"},{"name":"University Children's Hospital Paracelsus Medical University Salzburg Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8912-7507","authenticated-orcid":false,"given":"Namik","family":"Kaya","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia"},{"name":"Department of Translational Genomics, Center for Genomics Medicine King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Menno D.","family":"Stellingwerff","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, Emma Children's Hospital, Amsterdam Leukodystrophy Center, Amsterdam University Medical Centers Vrije Universiteit and Amsterdam Neuroscience Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Pistorio","sequence":"additional","affiliation":[{"name":"Clinical Epidemiology and Biostatistics Unit IRCCS Istituto Giannina Gaslini Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Glamuzina","sequence":"additional","affiliation":[{"name":"Adult and Paediatric National Metabolic Service Starship Children's Hospital Auckland New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clara D.","family":"Karnebeek","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Clinical Genetics Academic Medical Centre Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Skrypnyk","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, Al\u2010Jawhara Centre for Molecular Medicine Arabian Gulf University Manama Kingdom of Bahrain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katarzyna","family":"Iwanicka\u2010Pronicka","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics The Children's Memorial Health Institute Warsaw Poland"},{"name":"Department of Audiology and Phoniatrics The Children's Memorial Health Institute Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorota","family":"Piekutowska\u2010Abramczuk","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics The Children's Memorial Health Institute Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"El\u017cbieta","family":"Ciara","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics The Children's Memorial Health Institute Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederic","family":"Tort","sequence":"additional","affiliation":[{"name":"Secci\u00f3 d'Errors Cong\u00e8nits del Metabolisme\u2010IBC, Servei de Bioqu\u00edmica iGen\u00e8tica Molecular Hospital Cl\u00ednic, IDIBAPS, CIBERER Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beth","family":"Sheidley","sequence":"additional","affiliation":[{"name":"Department of Neurology F.M. Kirby Neurobiology Center, Boston Children's Hospital Boston Massachusettes USA"},{"name":"Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program Boston Children's Hospital Boston Massachusettes USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annapurna","family":"Poduri","sequence":"additional","affiliation":[{"name":"Department of Neurology F.M. Kirby Neurobiology Center, Boston Children's Hospital Boston Massachusettes USA"},{"name":"Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program Boston Children's Hospital Boston Massachusettes USA"},{"name":"Department of Neurology Harvard Medical School Boston Massachusettes USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Parul","family":"Jayakar","sequence":"additional","affiliation":[{"name":"Nicklaus Children's Hospital Miami Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anuj","family":"Jayakar","sequence":"additional","affiliation":[{"name":"Nicklaus Children's Hospital Miami Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jariya","family":"Upadia","sequence":"additional","affiliation":[{"name":"Tulane University School of Medicine New Orleans Louisiana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolette","family":"Walano","sequence":"additional","affiliation":[{"name":"Tulane University School of Medicine New Orleans Louisiana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias B.","family":"Haack","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holger","family":"Prokisch","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Technische Universit\u00e4t M\u00fcnchen  Munich Germany"},{"name":"Institute of Human Genetics Helmholtz Zentrum M\u00fcnchen Neuherberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hesham","family":"Aldhalaan","sequence":"additional","affiliation":[{"name":"Department of Neurosciences King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ehsan G.","family":"Karimiani","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Next Generation Genetic Polyclinic Mashhad Iran"},{"name":"Molecular and Clinical Sciences Institute St. George's University of London, Cranmer Terrace London UK"},{"name":"Innovative Medical Research Center Islamic Azad University, Mashhad Branch Mashhad Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yilmaz","family":"Yildiz","sequence":"additional","affiliation":[{"name":"Pediatric Metabolic Diseases Clinic Dr. Sami Ulus Training and Research Hospital for Maternity and Children Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmet C.","family":"Ceylan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Ankara City Hospital Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Santiago\u2010Sim","sequence":"additional","affiliation":[{"name":"GeneDx Gaithersburg Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Dameron","sequence":"additional","affiliation":[{"name":"GeneDx Gaithersburg Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Yang","sequence":"additional","affiliation":[{"name":"GeneDx Gaithersburg Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehran B.","family":"Toosi","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department, Ghaem Hospital Mashhad University of Medical Sciences Mashhad Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farah","family":"Ashrafzadeh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Mashhad University of Medical Sciences Mashhad Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javad","family":"Akhondian","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department, Ghaem Hospital Mashhad University of Medical Sciences Mashhad Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shima","family":"Imannezhad","sequence":"additional","affiliation":[{"name":"Department of Pediatric Diseases Mashhad University of Medical Sciences Mashhad Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanieh S.","family":"Mirzadeh","sequence":"additional","affiliation":[{"name":"Department of Pediatric Diseases Mashhad University of Medical Sciences Mashhad Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shazia","family":"Maqbool","sequence":"additional","affiliation":[{"name":"Development and Behavioral Pediatrics Department Institute of Child Health and The Children Hospital Lahore Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aisha","family":"Farid","sequence":"additional","affiliation":[{"name":"Development and Behavioral Pediatrics Department Institute of Child Health and The Children Hospital Lahore Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed A.","family":"Al\u2010Muhaizea","sequence":"additional","affiliation":[{"name":"Department of Neurosciences King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meznah O.","family":"Alshwameen","sequence":"additional","affiliation":[{"name":"Department of Neurosciences King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lama","family":"Aldowsari","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maysoon","family":"Alsagob","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashwaq","family":"Alyousef","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rawan","family":"AlMass","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aljouhra","family":"AlHargan","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali H.","family":"Alwadei","sequence":"additional","affiliation":[{"name":"Neurosciences Department King Fahad Medical City Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha M.","family":"AlRasheed","sequence":"additional","affiliation":[{"name":"Department of Clinical Pharmacy King Saud University Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dilek","family":"Colak","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, Epidemiology and Scientific Computing KFSHRC Riyadh Kingdom of Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanan","family":"Alqudairy","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sameena","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Neurosciences King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew A.","family":"Lines","sequence":"additional","affiliation":[{"name":"Medical Genetics, Department of Pediatrics Alberta Children's Hospital Calgary Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. \u00c1ngeles","family":"Garc\u00eda Cazorla","sequence":"additional","affiliation":[{"name":"Inborn Errors of Metabolism Unit Hospital Sant Joan de D\u00e9u Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2249-246X","authenticated-orcid":false,"given":"Antonia","family":"Ribes","sequence":"additional","affiliation":[{"name":"Secci\u00f3 d'Errors Cong\u00e8nits del Metabolisme\u2010IBC, Servei de Bioqu\u00edmica iGen\u00e8tica Molecular Hospital Cl\u00ednic, IDIBAPS, CIBERER Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Morava","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics, Laboratory of Medicine and Pathology Center for Individualized Medicine, Mayo Clinic Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farah","family":"Bibi","sequence":"additional","affiliation":[{"name":"Institute of Biochemistry and Biotechnology Pir Mehar Ali Shah Arid Agriculture University Rawalpindi Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahzad","family":"Haider","sequence":"additional","affiliation":[{"name":"Izzat Ali Shah Hospital Lalarukh Wah Cantt Rawalpindi Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo P.","family":"Ferla","sequence":"additional","affiliation":[{"name":"NIHR Oxford BRC Genomic Medicine, Wellcome Centre for Human Genetics University of Oxford Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny C.","family":"Taylor","sequence":"additional","affiliation":[{"name":"NIHR Oxford BRC Genomic Medicine, Wellcome Centre for Human Genetics University of Oxford Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hessa S.","family":"Alsaif","sequence":"additional","affiliation":[{"name":"Department of Translational Genomics, Center for Genomics Medicine King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdulwahab","family":"Firdous","sequence":"additional","affiliation":[{"name":"Department of Translational Genomics, Center for Genomics Medicine King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mais","family":"Hashem","sequence":"additional","affiliation":[{"name":"Department of Translational Genomics, Center for Genomics Medicine King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chingiz","family":"Shashkin","sequence":"additional","affiliation":[{"name":"International University of Postgraduate Education Almaty Kazakhstan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kairgali","family":"Koneev","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery Asfendiyarov Kazakh National Medical University Almaty Kazakhstan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rauan","family":"Kaiyrzhanov","sequence":"additional","affiliation":[{"name":"UCL Queen Square Institute of Neurology University College London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Efthymiou","sequence":"additional","affiliation":[{"name":"UCL Queen Square Institute of Neurology University College London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Queen Square","family":"Genomics","sequence":"additional","affiliation":[{"name":"UCL Queen Square Institute of Neurology University College London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Schmitt\u2010Mechelke","sequence":"additional","affiliation":[{"name":"Department of Neuropaediatrics Children's Hospital, Cantonal Hospital Lucerne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Ziegler","sequence":"additional","affiliation":[{"name":"Zentrum f\u00fcr Kinder und Jugendmedizin Heidelberg, Sektion Neurop\u00e4diatrie und Stoffwechselmedizin Universit\u00e4tsklinikum Heidelberg Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmoud Y.","family":"Issa","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Division National Research Centre Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hasnaa M.","family":"Elbendary","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Division National Research Centre Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pasquale","family":"Striano","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health Universit\u00e0 Degli Studi di Genova Genoa Italy"},{"name":"Pediatric Neurology and Muscular Diseases Unit IRCCS Istituto Giannina Gaslini Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4158-341X","authenticated-orcid":false,"given":"Fowzan S.","family":"Alkuraya","sequence":"additional","affiliation":[{"name":"Department of Translational Genomics, Center for Genomics Medicine King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia"},{"name":"Department of Anatomy and Cell Biology Alfaisal University Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha S.","family":"Zaki","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Division National Research Centre Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph G.","family":"Gleeson","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute University of California San Diego California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tahsin Stefan","family":"Barakat","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorgen","family":"Bierau","sequence":"additional","affiliation":[{"name":"Laboratory of Biochemical Genetics, Department of Clinical Genetics Maastricht University Hospital Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8912-0954","authenticated-orcid":false,"given":"Marjo S.","family":"Knaap","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, Emma Children's Hospital, Amsterdam Leukodystrophy Center, Amsterdam University Medical Centers Vrije Universiteit and Amsterdam Neuroscience Amsterdam The Netherlands"},{"name":"Department of Functional Genomics, Center for Neurogenomics and Cognitive Research VU University Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reza","family":"Maroofian","sequence":"additional","affiliation":[{"name":"UCL Queen Square Institute of Neurology University College London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[{"name":"UCL Queen Square Institute of Neurology University College London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,1,12]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkp1250"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11940-017-0467-0"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/cdd.2009.53"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.2217\/14622416.8.9.1221"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0000000000000432"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25619"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12929-016-0291-y"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2004.078907"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btq007"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201086"},{"key":"e_1_2_10_12_1","unstructured":"Combined Annotation Dependent Depletion (CADD).http:\/\/cadd.gs.washington.edu"},{"key":"e_1_2_10_13_1","unstructured":"DECIPHER.https:\/\/decipher.sanger.ac.uk"},{"key":"e_1_2_10_14_1","unstructured":"Ensembl.https:\/\/www.ensembl.org\/index.html"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2958.2005.04950.x"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12283"},{"key":"e_1_2_10_17_1","unstructured":"Gene Cards.http:\/\/www.genecards.org"},{"key":"e_1_2_10_18_1","unstructured":"Gene Matcher.http:\/\/www.genematcher.org"},{"key":"e_1_2_10_19_1","unstructured":"Genome Aggregation Database (GnomAD).http:\/\/gnomad.broadinstitute.org"},{"key":"e_1_2_10_20_1","unstructured":"Greater Middle East (GME) Variome Project.http:\/\/igm.ucsd.edu\/gme\/"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1007605"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(79)90410-8"},{"key":"e_1_2_10_23_1","unstructured":"Human Genome Variation Society.https:\/\/varnomen.hgvs.org"},{"key":"e_1_2_10_24_1","unstructured":"Human Splice Finder.http:\/\/www.umd.be\/HSF"},{"key":"e_1_2_10_25_1","unstructured":"Iranome.http:\/\/www.iranome.ir"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2018.12.012"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61103"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24496"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.213.1.r99se01121"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms19030871"},{"key":"e_1_2_10_33_1","first-page":"CD001903","article-title":"Ketogenic diet and other dietary treatments for epilepsy","volume":"2","author":"Martin K.","year":"2016","journal-title":"Cochrane Database of Systematic Reviews"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.2174\/1874082001004010058"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(15)00250-1"},{"key":"e_1_2_10_36_1","unstructured":"Mutation Taster:http:\/\/www.mutationtaster.org"},{"key":"e_1_2_10_37_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000011719"},{"key":"e_1_2_10_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/hgv.2015.67"},{"key":"e_1_2_10_39_1","unstructured":"Online Mendelian Inheritance in Man.http:\/\/www.ncbi.nlm.nih.gov\/Omim"},{"key":"e_1_2_10_40_1","unstructured":"Proteomics DB.https:\/\/www.proteomicsdb.org"},{"key":"e_1_2_10_41_1","unstructured":"PubMed.http:\/\/www.ncbi.nlm.nih.gov\/pubmed"},{"key":"e_1_2_10_42_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2012.04406.x"},{"key":"e_1_2_10_43_1","unstructured":"RefSeq.https:\/\/www.ncbi.nlm.nih.gov\/refseq"},{"key":"e_1_2_10_44_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_45_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.16427"},{"key":"e_1_2_10_46_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-020-0765-3"},{"key":"e_1_2_10_47_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms18071384"},{"key":"e_1_2_10_48_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.017731"},{"key":"e_1_2_10_49_1","doi-asserted-by":"publisher","DOI":"10.1097\/FTD.0b013e31821a7c34"},{"key":"e_1_2_10_50_1","unstructured":"SIFT.https:\/\/sift.bii.a\u2010star.edu.sg"},{"key":"e_1_2_10_51_1","first-page":"131","article-title":"ITPA (inosine triphosphate pyrophosphatase): From surveillance of nucleotide pools to human disease and pharmacogenetics","volume":"753","author":"Simone P. D.","year":"2013","journal-title":"Mutation Research\/DNA Repair"},{"key":"e_1_2_10_52_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22844"},{"key":"e_1_2_10_53_1","unstructured":"The 1000 Genomes Browser.http:\/\/browser.1000genomes.org\/index.html"},{"key":"e_1_2_10_54_1","unstructured":"UCSC Human Genome Database.http:\/\/www.genome.ucsc.edu"},{"key":"e_1_2_10_55_1","unstructured":"UniProt.https:\/\/www.uniprot.org"},{"key":"e_1_2_10_56_1","unstructured":"Varsome.https:\/\/varsome.com"},{"key":"e_1_2_10_57_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm337"},{"key":"e_1_2_10_58_1","doi-asserted-by":"publisher","DOI":"10.3390\/nu12061809"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.24326","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/humu.24326","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.24326","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:55:56Z","timestamp":1672332956000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.24326"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,12]]},"references-count":57,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,3]]}},"alternative-id":["10.1002\/humu.24326"],"URL":"https:\/\/doi.org\/10.1002\/humu.24326","archive":["Portico"],"relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1,12]]},"assertion":[{"value":"2021-07-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-12-29","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-01-12","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}