{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T21:47:23Z","timestamp":1785880043928,"version":"3.56.0"},"reference-count":29,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"publisher","award":["2021-14297"],"award-info":[{"award-number":["2021-14297"]}],"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":[[2026,8]]},"DOI":"10.1016\/j.seizure.2026.05.025","type":"journal-article","created":{"date-parts":[[2026,5,25]],"date-time":"2026-05-25T15:11:27Z","timestamp":1779721887000},"page":"112-117","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Genetic analysis of self-limiting familial infantile epilepsy caused by PRRT2 variants in Indian patients"],"prefix":"10.1016","volume":"140","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-1641-6751","authenticated-orcid":false,"given":"Revathi","family":"Sampath","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3712-2402","authenticated-orcid":false,"given":"Prabhakara","family":"Somanna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7244-0492","authenticated-orcid":false,"given":"Vykuntaraju K","family":"Gowda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8077-3673","authenticated-orcid":false,"given":"Anbazhagan","family":"Kolandaswamy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-0825-3558","authenticated-orcid":false,"given":"Megha","family":"K","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Prashanth Lingappa","family":"Kukkle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.seizure.2026.05.025_bib0001","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1016\/j.ajhg.2011.12.003","article-title":"PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome","volume":"90","author":"Heron","year":"2012","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.seizure.2026.05.025_bib0002","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1177\/088307380201700909","article-title":"Benign familial infantile seizures: further delineation of the syndrome","volume":"17","author":"Caraballo","year":"2002","journal-title":"J Child Neurol"},{"key":"10.1016\/j.seizure.2026.05.025_bib0003","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2023.1135044","article-title":"Clinical and genetic analysis of benign familial infantile epilepsy caused by PRRT2 gene variant","volume":"14","author":"Gu","year":"2023","journal-title":"Front Neurol"},{"key":"10.1016\/j.seizure.2026.05.025_bib0004","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1038\/s10038-017-0359-x","article-title":"Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort","volume":"63","author":"Zeng","year":"2018","journal-title":"J Hum Genet"},{"key":"10.1016\/j.seizure.2026.05.025_bib0005","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1016\/j.braindev.2003.12.012","article-title":"Benign familial infantile seizures","volume":"27","author":"Vigevano","year":"2005","journal-title":"Brain Dev"},{"key":"10.1016\/j.seizure.2026.05.025_bib0006","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3892\/etm.2021.9935","article-title":"Novel PRRT2 gene variants identified in paroxysmal kinesigenic dyskinesia and benign familial infantile epilepsy in Chinese families","volume":"21","author":"He","year":"2021","journal-title":"Exp Ther Med"},{"key":"10.1016\/j.seizure.2026.05.025_bib0007","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1016\/j.seizure.2021.07.013","article-title":"PRRT2 variants and effectiveness of various antiepileptic drugs in self-limited familial infantile epilepsy","volume":"91","author":"Zhao","year":"2021","journal-title":"Seizure"},{"key":"10.1016\/j.seizure.2026.05.025_bib0008","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/j.ejpn.2020.06.005","article-title":"Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients","volume":"28","author":"Balagura","year":"2020","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.seizure.2026.05.025_bib0009","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.seizure.2019.05.017","article-title":"PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia","volume":"71","author":"Okumura","year":"2019","journal-title":"Seizure"},{"key":"10.1016\/j.seizure.2026.05.025_bib0010","doi-asserted-by":"crossref","first-page":"2104","DOI":"10.1212\/WNL.0b013e3182752c6c","article-title":"PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures","volume":"79","author":"Scheffer","year":"2012","journal-title":"Neurology"},{"key":"10.1016\/j.seizure.2026.05.025_bib0011","doi-asserted-by":"crossref","first-page":"1138","DOI":"10.1111\/j.1528-1167.2007.01049.x","article-title":"SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum","volume":"48","author":"Herlenius","year":"2007","journal-title":"Epilepsia"},{"key":"10.1016\/j.seizure.2026.05.025_bib0012","article-title":"PRRT2-related epilepsy","volume":"11","author":"Komar","year":"2025","journal-title":"Neurol Genet"},{"key":"10.1016\/j.seizure.2026.05.025_bib0013","doi-asserted-by":"crossref","first-page":"2726","DOI":"10.1093\/brain\/awg286","article-title":"KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum","volume":"126","author":"Singh","year":"2003","journal-title":"Brain"},{"key":"10.1016\/j.seizure.2026.05.025_bib0014","doi-asserted-by":"crossref","first-page":"459","DOI":"10.4103\/0972-2327.144039","article-title":"Molecular analysis of PRRT2 gene in a case of paroxysmal kinesigenic dyskinesia patient","volume":"17","author":"Prabhakara","year":"2014","journal-title":"Ann Indian Acad Neurol"},{"key":"10.1016\/j.seizure.2026.05.025_bib0015","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"ACMG laboratory quality assurance committee, 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"},{"key":"10.1016\/j.seizure.2026.05.025_bib0016","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1111\/epi.12089","article-title":"Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance","volume":"54","author":"Zara","year":"2013","journal-title":"Epilepsia"},{"key":"10.1016\/j.seizure.2026.05.025_bib0017","doi-asserted-by":"crossref","first-page":"3476","DOI":"10.1093\/brain\/awv317","article-title":"The evolving spectrum of PRRT2-associated paroxysmal diseases","volume":"138","author":"Ebrahimi-Fakhari","year":"2015","journal-title":"Brain"},{"key":"10.1016\/j.seizure.2026.05.025_bib0018","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1016\/j.celrep.2011.11.001","article-title":"Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions","volume":"1","author":"Lee","year":"2012","journal-title":"Cell Rep"},{"key":"10.1016\/j.seizure.2026.05.025_bib0019","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2021.629747","article-title":"The spectrum of PRRT2-associated disorders: update on clinical features and pathophysiology","volume":"12","author":"Landolfi","year":"2021","journal-title":"Front Neurol"},{"key":"10.1016\/j.seizure.2026.05.025_bib0020","doi-asserted-by":"crossref","first-page":"3493","DOI":"10.1093\/brain\/awr289","article-title":"Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias","volume":"134","author":"Wang","year":"2011","journal-title":"Brain"},{"key":"10.1016\/j.seizure.2026.05.025_bib0021","doi-asserted-by":"crossref","first-page":"39184","DOI":"10.18632\/oncotarget.9258","article-title":"PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects","volume":"7","author":"Liu","year":"2016","journal-title":"Oncotarget"},{"key":"10.1016\/j.seizure.2026.05.025_bib0022","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/j.celrep.2016.03.005","article-title":"PRRT2 is a key component of the Ca2+-dependent neurotransmitter release machinery","volume":"15","author":"Valente","year":"2016","journal-title":"Cell Rep"},{"key":"10.1016\/j.seizure.2026.05.025_bib0023","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1111\/cns.13147","article-title":"Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2-related disorders","volume":"26","author":"Zhao","year":"2019","journal-title":"CNS Neurosci Ther"},{"key":"10.1016\/j.seizure.2026.05.025_bib0024","article-title":"Three siblings with self-limited familial infantile epilepsy with PRRT2 mutation: a case series","volume":"12","author":"Iwanami","year":"2024","journal-title":"SAGE Open Med Case Rep"},{"key":"10.1016\/j.seizure.2026.05.025_bib0025","doi-asserted-by":"crossref","DOI":"10.4274\/ArchEpilepsy.2023.23082","article-title":"Epilepsy spectrum associated with PRRT2 variants: case presentations","author":"Ta\u015fdelen","year":"2023","journal-title":"Arch Epilepsy"},{"key":"10.1016\/j.seizure.2026.05.025_bib0026","doi-asserted-by":"crossref","first-page":"1234","DOI":"10.1007\/s00415-012-6777-y","article-title":"PRRT2-related disorders: further PKD and ICCA cases and review of the literature","volume":"260","author":"Becker","year":"2013","journal-title":"J Neurol"},{"key":"10.1016\/j.seizure.2026.05.025_bib0027","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.2469","article-title":"A new genetic diagnosis strategy for paroxysmal kinesigenic dyskinesia: targeted high-throughput detection of PRRT2 gene c.649 locus","volume":"12","author":"Wen","year":"2024","journal-title":"Molec Gen Gen Med"},{"key":"10.1016\/j.seizure.2026.05.025_bib0028","doi-asserted-by":"crossref","DOI":"10.3389\/fped.2021.676616","article-title":"The genotype and phenotype of proline-rich transmembrane protein 2 associated disorders in chinese children","volume":"9","author":"Luo","year":"2021","journal-title":"Front Pediatr"},{"key":"10.1016\/j.seizure.2026.05.025_bib0029","doi-asserted-by":"crossref","DOI":"10.3389\/fped.2025.1509660","article-title":"Oxcarbazepine may be an effective option for Chinese pediatric patients with self-limited focal epilepsy of neonatal\/infantile onset: a retrospective cohort study","volume":"13","author":"Sun","year":"2025","journal-title":"Front Pediatr"}],"container-title":["Seizure: European Journal of Epilepsy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1059131126001573?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1059131126001573?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T21:06:04Z","timestamp":1785877564000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1059131126001573"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8]]},"references-count":29,"alternative-id":["S1059131126001573"],"URL":"https:\/\/doi.org\/10.1016\/j.seizure.2026.05.025","relation":{},"ISSN":["1059-1311"],"issn-type":[{"value":"1059-1311","type":"print"}],"subject":[],"published":{"date-parts":[[2026,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetic analysis of self-limiting familial infantile epilepsy caused by PRRT2 variants in Indian patients","name":"articletitle","label":"Article Title"},{"value":"Seizure: European Journal of Epilepsy","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.seizure.2026.05.025","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 British Epilepsy Association. Published by Elsevier Ltd. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}