{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T19:59:20Z","timestamp":1786996760682,"version":"build-2736575974"},"reference-count":35,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,2,1]],"date-time":"2024-02-01T00:00:00Z","timestamp":1706745600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,2,1]],"date-time":"2024-02-01T00:00:00Z","timestamp":1706745600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,2,2]],"date-time":"2025-02-02T00:00:00Z","timestamp":1738454400000},"content-version":"vor","delay-in-days":367,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"publisher","award":["5\/7\/1658\/CH\/Adhoc\/2019-RBMCH"],"award-info":[{"award-number":["5\/7\/1658\/CH\/Adhoc\/2019-RBMCH"]}],"id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","seizure-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Seizure: European Journal of Epilepsy"],"published-print":{"date-parts":[[2024,2]]},"DOI":"10.1016\/j.seizure.2023.12.017","type":"journal-article","created":{"date-parts":[[2024,1,3]],"date-time":"2024-01-03T10:47:40Z","timestamp":1704278860000},"page":"20-27","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"special_numbering":"C","title":["Metabolic causes of pediatric developmental &amp; epileptic encephalopathies (DEE)- genetic variant analysis in a south Indian cohort"],"prefix":"10.1016","volume":"115","author":[{"given":"Manna","family":"Jose","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfiya","family":"Fasaludeen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harini","family":"Pavuluri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4076-4008","authenticated-orcid":false,"given":"Pavan Kumar","family":"Rudrabhatla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9878-627X","authenticated-orcid":false,"given":"Soumya V.","family":"Chandrasekharan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jithu","family":"Jose","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moinak","family":"Banerjee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7351-0878","authenticated-orcid":false,"given":"Soumya","family":"Sundaram","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashalatha","family":"Radhakrishnan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0972-3307","authenticated-orcid":false,"given":"Ramshekhar N.","family":"Menon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.seizure.2023.12.017_bib0001","doi-asserted-by":"crossref","unstructured":"Saudubray J.M.: Clinical approach to inborn errors of metabolism in pediatrics. In: Saudubray J.M., van der Berghe G., Walter J.H., Inborn metabolic diseases, ed 5. Berlin, Springer 2012; 1:3\u201354.","DOI":"10.1007\/978-3-642-15720-2_1"},{"key":"10.1016\/j.seizure.2023.12.017_bib0002","series-title":"Clinic in development medicine","article-title":"Diseases of the nervous system in childhood","author":"Aicardi","year":"1995"},{"key":"10.1016\/j.seizure.2023.12.017_bib0003","article-title":"Diagnosis and management of epileptic encephalopathies in children","volume":"2013","author":"Jain","year":"2013","journal-title":"Epilepsy Res Treat"},{"issue":"1","key":"10.1016\/j.seizure.2023.12.017_bib0004","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1002\/jimd.12315","article-title":"Developments in evidence creation for treatments of inborn errors of metabolism","volume":"44","author":"Stockler-Ipsiroglu","year":"2021","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.seizure.2023.12.017_bib0005","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1002\/jimd.12348","article-title":"ICIMD Advisory Group. An international classification of inherited metabolic disorders (ICIMD)","volume":"44","author":"Ferreira","year":"2021","journal-title":"J Inherit Metab Dis"},{"issue":"4","key":"10.1016\/j.seizure.2023.12.017_bib0006","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1016\/j.spen.2016.11.006","article-title":"Epilepsy in inborn errors of metabolism with therapeutic options","volume":"23","author":"Campistol","year":"2016","journal-title":"Semin Pediatr Neurol"},{"key":"10.1016\/j.seizure.2023.12.017_bib0007","doi-asserted-by":"crossref","first-page":"508","DOI":"10.3390\/genes13030508","article-title":"Overview of metabolic epilepsies","volume":"13","author":"Tumiene","year":"2022","journal-title":"Genes (Basel)"},{"issue":"4","key":"10.1016\/j.seizure.2023.12.017_bib0008","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1111\/j.1528-1167.2010.02522.x","article-title":"Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009","volume":"51","author":"Berg","year":"2010","journal-title":"Epilepsia"},{"issue":"4","key":"10.1016\/j.seizure.2023.12.017_bib0009","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1111\/epi.13709","article-title":"ILAE classification of the epilepsies: position paper of the ILAE Commission for classification and terminology","volume":"58","author":"Scheffer","year":"2017","journal-title":"Epilepsia"},{"issue":"1","key":"10.1016\/j.seizure.2023.12.017_bib0010","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1684\/epd.2021.1244","article-title":"Developmental and epileptic encephalopathies: recognition and approaches to care","volume":"23","author":"Raga","year":"2021","journal-title":"Epilept Disord"},{"key":"10.1016\/j.seizure.2023.12.017_bib0011","doi-asserted-by":"crossref","first-page":"11.10.1","DOI":"10.1002\/0471250953.bi1110s43","article-title":"From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline","volume":"43","author":"Van der Auwera","year":"2013","journal-title":"Curr Protoc Bioinformat"},{"key":"10.1016\/j.seizure.2023.12.017_bib0012","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from next-generation sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucl Acid Res"},{"key":"10.1016\/j.seizure.2023.12.017_bib0013","doi-asserted-by":"crossref","DOI":"10.1016\/j.eplepsyres.2020.106398","article-title":"Genotype-phenotype correlates of infantile-onset developmental and epileptic encephalopathy syndromes in South India: a single centre experience","volume":"166","author":"Mitta","year":"2020","journal-title":"Epilepsy Res"},{"issue":"8","key":"10.1016\/j.seizure.2023.12.017_bib0014","doi-asserted-by":"crossref","first-page":"1919","DOI":"10.1007\/s00415-019-09358-1","article-title":"Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients","volume":"266","author":"Ganapathy","year":"2019","journal-title":"J Neurol"},{"key":"10.1016\/j.seizure.2023.12.017_bib0015","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"issue":"1","key":"10.1016\/j.seizure.2023.12.017_bib0016","doi-asserted-by":"crossref","first-page":"30","DOI":"10.7861\/clinmedicine.19-1-30","article-title":"The utility of phenomics in diagnosis of inherited metabolic disorders","volume":"19","author":"Rahman","year":"2019","journal-title":"Clin Med (Lond)"},{"key":"10.1016\/j.seizure.2023.12.017_bib0017","doi-asserted-by":"crossref","first-page":"2237","DOI":"10.1016\/j.bbadis.2015.05.011","article-title":"Genetics of the neuronal ceroid lipofuscinoses (Batten disease)","volume":"1852","author":"Mole","year":"2015","journal-title":"Biochim Biophys Acta"},{"issue":"4","key":"10.1016\/j.seizure.2023.12.017_bib0018","doi-asserted-by":"crossref","first-page":"514","DOI":"10.4103\/0028-3886.68660","article-title":"Progressive myoclonic epilepsy","volume":"58","author":"Satishchandra","year":"2010","journal-title":"Neurol India"},{"issue":"2","key":"10.1016\/j.seizure.2023.12.017_bib0019","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1111\/cge.14090","article-title":"Utility of clinical exome sequencing in progressive myoclonus epilepsy syndromes: an exploratory analysis","volume":"101","author":"Jose","year":"2022","journal-title":"Clin Genet"},{"issue":"D1","key":"10.1016\/j.seizure.2023.12.017_bib0020","doi-asserted-by":"crossref","first-page":"D1038","DOI":"10.1093\/nar\/gky1151","article-title":"OMIM.org: leveraging knowledge across phenotype-gene relationships","volume":"47","author":"Amberger","year":"2019","journal-title":"Nucl Acid Res"},{"key":"10.1016\/j.seizure.2023.12.017_bib0021","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1023\/B:BOLI.0000016687.88818.6d","article-title":"Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy","volume":"27","author":"Kurian","year":"2004","journal-title":"J Inherit Metab Dis"},{"issue":"supp","key":"10.1016\/j.seizure.2023.12.017_bib0022","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1111\/j.1528-1167.2009.02117.x","article-title":"The autosomal recessively inherited progressive myoclonus epilepsies and their genes","volume":"50","author":"Ramachandran","year":"2009","journal-title":"Epilepsia"},{"issue":"1","key":"10.1016\/j.seizure.2023.12.017_bib0023","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1007\/s00415-018-9084-4","article-title":"Progressive myoclonus epilepsy in Gaucher disease due to a new Gly-Gly mutation causing loss of an exonic splicing enhancer","volume":"266","author":"Tonin","year":"2019","journal-title":"J Neurol"},{"key":"10.1016\/j.seizure.2023.12.017_bib0024","first-page":"64","article-title":"The expanding phenotype of MELAS caused by the m.3291T >C mutation in the MT-TL1 gene","volume":"6","author":"Keilland","year":"2016","journal-title":"Mol Genet Metab Rep"},{"key":"10.1016\/j.seizure.2023.12.017_bib0025","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10048-004-0207-y","article-title":"PLP1-related inherited dysmyelinating disorders: pelizaeus-Merzbacher disease and spastic paraplegia type 2","volume":"6","author":"Inoue","year":"2005","journal-title":"Neurogenetics"},{"key":"10.1016\/j.seizure.2023.12.017_bib0026","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1001\/archneur.62.4.666","article-title":"l-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings","volume":"62","author":"Seijo-Martinez","year":"2005","journal-title":"Arch Neurol"},{"key":"10.1016\/j.seizure.2023.12.017_bib0027","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1002\/humu.10225","article-title":"Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy","volume":"21","author":"Benit","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1016\/j.seizure.2023.12.017_bib0028","doi-asserted-by":"crossref","first-page":"1368","DOI":"10.1016\/j.ajhg.2016.10.009","article-title":"Autosomal-recessive mutations in AP3B2, adaptor-related protein complex 3 beta 2 subunit, cause an early-onset epileptic encephalopathy with optic atrophy","volume":"99","author":"Assoum","year":"2016","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.seizure.2023.12.017_bib0029","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1007\/s10048-005-0221-8","article-title":"Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures","volume":"6","author":"Bennett","year":"2005","journal-title":"Neurogenetics"},{"key":"10.1016\/j.seizure.2023.12.017_bib0030","doi-asserted-by":"crossref","first-page":"3131","DOI":"10.1001\/jama.294.24.3131","article-title":"Adrenoleukodystrophy: new approaches to a neurodegenerative disease","volume":"294","author":"Moser","year":"2005","journal-title":"JAMA"},{"key":"10.1016\/j.seizure.2023.12.017_bib0031","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1001\/jamaneurol.2017.0298","article-title":"Clinical aspects of glucose transporter type 1 deficiency: information from a global registry","volume":"74","author":"Hao","year":"2017","journal-title":"JAMA Neurol"},{"issue":"5","key":"10.1016\/j.seizure.2023.12.017_bib0032","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1002\/humu.23723","article-title":"MT-ATP6 mitochondrial disease variants: phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases","volume":"40","author":"Ganetzky","year":"2019","journal-title":"Hum Mutat"},{"key":"10.1016\/j.seizure.2023.12.017_bib0033","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1097\/NRL.0b013e3181c78a89","article-title":"Polymerase gamma 1 mutations: clinical correlations","volume":"16","author":"Milone","year":"2010","journal-title":"Neurologist"},{"key":"10.1016\/j.seizure.2023.12.017_bib0034","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1136\/jmedgenet-2015-103500","article-title":"Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy","volume":"53","author":"Koch","year":"2016","journal-title":"J Med Genet"},{"key":"10.1016\/j.seizure.2023.12.017_bib0035","doi-asserted-by":"crossref","first-page":"14098","DOI":"10.1038\/s41598-019-50518-0","article-title":"Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening","volume":"9","author":"Bower","year":"2019","journal-title":"Sci Rep"}],"container-title":["Seizure: European Journal of Epilepsy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1059131123003333?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1059131123003333?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T22:19:18Z","timestamp":1778797158000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1059131123003333"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2]]},"references-count":35,"alternative-id":["S1059131123003333"],"URL":"https:\/\/doi.org\/10.1016\/j.seizure.2023.12.017","relation":{},"ISSN":["1059-1311"],"issn-type":[{"value":"1059-1311","type":"print"}],"subject":[],"published":{"date-parts":[[2024,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Metabolic causes of pediatric developmental & epileptic encephalopathies (DEE)- genetic variant analysis in a south Indian cohort","name":"articletitle","label":"Article Title"},{"value":"Seizure: European Journal of Epilepsy","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.seizure.2023.12.017","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 British Epilepsy Association. Published by Elsevier Ltd.","name":"copyright","label":"Copyright"}]}}