{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T03:12:46Z","timestamp":1793157166238,"version":"4.5.0"},"reference-count":45,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","ejpn-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Paediatric Neurology"],"published-print":{"date-parts":[[2026,1]]},"DOI":"10.1016\/j.ejpn.2025.11.005","type":"journal-article","created":{"date-parts":[[2025,12,4]],"date-time":"2025-12-04T00:39:29Z","timestamp":1764808769000},"page":"50-57","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"special_numbering":"C","title":["Diagnostic value of genetic testing, with focus on CACNA1A, in children with episodic neurologic disorders: a single-centre retrospective study"],"prefix":"10.1016","volume":"60","author":[{"given":"Micaela","family":"Chinigioli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Mart\u00ed-Sanchez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delia","family":"Yubero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clara","family":"Xiol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8824-2896","authenticated-orcid":false,"given":"Jonathan","family":"Olival","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adri\u00e1n","family":"Alcal\u00e1 San Mart\u00edn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Hernando-Davalillo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Loreto","family":"Martorell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Armstrong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c1ngeles","family":"Schteinschnaider","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6320-2641","authenticated-orcid":false,"given":"Juan Dar\u00edo","family":"Ortigoza-Escobar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"6","key":"10.1016\/j.ejpn.2025.11.005_bib1","doi-asserted-by":"crossref","first-page":"717","DOI":"10.3390\/life14060717","article-title":"Benign paroxysmal torticollis","volume":"14","author":"Tozzi","year":"2024","journal-title":"Life"},{"key":"10.1016\/j.ejpn.2025.11.005_bib2","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.pediatrneurol.2020.06.001","article-title":"Ocular motor paroxysmal events in neonates and infants: a review of the literature","volume":"117","author":"Falsaperla","year":"2021","journal-title":"Pediatr. Neurol."},{"issue":"3","key":"10.1016\/j.ejpn.2025.11.005_bib3","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1097\/WCO.0000000000000558","article-title":"Episodic syndromes of childhood associated with migraine","volume":"31","author":"Gelfand","year":"2018","journal-title":"Curr. Opin. Neurol."},{"issue":"12","key":"10.1016\/j.ejpn.2025.11.005_bib4","doi-asserted-by":"crossref","first-page":"1256","DOI":"10.1111\/dmcn.13935","article-title":"Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders","volume":"60","author":"Humbertclaude","year":"2018","journal-title":"Dev. Med. Child Neurol."},{"key":"10.1016\/j.ejpn.2025.11.005_bib5","series-title":"Paroxysmal Movement Disorders","first-page":"133","article-title":"Episodic ataxias","author":"Zittel","year":"2021"},{"issue":"October 2020","key":"10.1016\/j.ejpn.2025.11.005_bib6","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/j.seizure.2021.02.004","article-title":"Non-epileptic paroxysmal events in paediatric patients: a single tertiary centre study in Egypt","volume":"86","author":"Thabit","year":"2021","journal-title":"Seizure"},{"issue":"March","key":"10.1016\/j.ejpn.2025.11.005_bib7","first-page":"1","article-title":"Paroxysmal genetic movement disorders and epilepsy","volume":"12","author":"de Gusm\u00e3o","year":"2021","journal-title":"Front. Neurol."},{"issue":"8","key":"10.1016\/j.ejpn.2025.11.005_bib8","doi-asserted-by":"crossref","first-page":"384","DOI":"10.3345\/cep.2020.00451","article-title":"Is it really a seizure? The challenge of paroxysmal nonepileptic events in young infants","volume":"64","author":"Jung","year":"2021","journal-title":"Clin. Exp. Pediatr."},{"issue":"4","key":"10.1016\/j.ejpn.2025.11.005_bib9","first-page":"1099","article-title":"Movement disorders in children","volume":"25","author":"Pearson","year":"2019","journal-title":"Contin (Minneap Minn)"},{"issue":"7","key":"10.1016\/j.ejpn.2025.11.005_bib10","doi-asserted-by":"crossref","first-page":"1098","DOI":"10.1016\/j.ajhg.2023.05.009","article-title":"Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias","volume":"110","author":"Cunha","year":"2023","journal-title":"Am. J. Hum. Genet."},{"issue":"2","key":"10.1016\/j.ejpn.2025.11.005_bib11","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3390\/ijms19020619","article-title":"Stroke-like episodes and cerebellar syndrome in phosphomannomutase deficiency (PMM2-CDG): evidence for hypoglycosylation-driven channelopathy","volume":"19","author":"Izquierdo-Serra","year":"2018","journal-title":"Int. J. Mol. Sci."},{"issue":"6","key":"10.1016\/j.ejpn.2025.11.005_bib12","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1111\/dmcn.13033","article-title":"Eye movement disorders are an early manifestation of CACNA1A mutations in children","volume":"58","author":"Tantsis","year":"2016","journal-title":"Dev. Med. Child Neurol."},{"issue":"10","key":"10.1016\/j.ejpn.2025.11.005_bib13","doi-asserted-by":"crossref","first-page":"6618","DOI":"10.1007\/s00415-024-12602-y","article-title":"Natural history of non-polyglutamine CACNA1A disease in Austria","volume":"271","author":"Indelicato","year":"2024","journal-title":"J. Neurol."},{"issue":"2","key":"10.1016\/j.ejpn.2025.11.005_bib14","doi-asserted-by":"crossref","first-page":"1","DOI":"10.4172\/2472-1913.100010","article-title":"Episodic syndromes that May be associated with migraine - two clinically useful markers","volume":"1","author":"Francis","year":"2016","journal-title":"J. Headache Pain Manag."},{"issue":"6","key":"10.1016\/j.ejpn.2025.11.005_bib15","doi-asserted-by":"crossref","DOI":"10.1007\/s11910-015-0551-3","article-title":"Pediatric migraine variants: a review of epidemiology, diagnosis, treatment, and outcome","volume":"15","author":"Lagman-Bartolome","year":"2015","journal-title":"Curr. Neurol. Neurosci. Rep."},{"issue":"4","key":"10.1016\/j.ejpn.2025.11.005_bib16","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1111\/head.12828","article-title":"Erratum: migraine variants or episodic syndromes that may be associated with migraine and other unusual pediatric headache syndromes","volume":"56","author":"David","year":"2016","journal-title":"Headache"},{"key":"10.1016\/j.ejpn.2025.11.005_bib17","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1146\/annurev-neuro-062012-170300","article-title":"Episodic neurologic disorders: syndromes, genes, and mechanisms","volume":"36","author":"Russell","year":"2013","journal-title":"Annu. Rev. Neurosci."},{"issue":"8","key":"10.1016\/j.ejpn.2025.11.005_bib18","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1177\/0883073816636226","article-title":"The genetics of benign paroxysmal torticollis of infancy: is there an Association with mutations in the CACNA1A gene?","volume":"31","author":"Shin","year":"2016","journal-title":"J. Child Neurol."},{"issue":"6","key":"10.1016\/j.ejpn.2025.11.005_bib19","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1111\/dmcn.13744","article-title":"Phenotypes, genotypes, and the management of paroxysmal movement disorders","volume":"60","author":"Silveira-Moriyama","year":"2018","journal-title":"Dev. Med. Child Neurol."},{"issue":"February","key":"10.1016\/j.ejpn.2025.11.005_bib20","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/j.parkreldis.2019.02.021","article-title":"Paroxysmal movement disorders: recent advances and proposal of a classification system","volume":"59","author":"Zhang","year":"2019","journal-title":"Park. Relat. Disord."},{"issue":"5","key":"10.1016\/j.ejpn.2025.11.005_bib21","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1016\/j.ejpn.2019.08.004","article-title":"A clinical diagnostic algorithm for early onset cerebellar ataxia","volume":"23","author":"Brandsma","year":"2019","journal-title":"Eur. J. Paediatr. Neurol."},{"issue":"5","key":"10.1016\/j.ejpn.2025.11.005_bib22","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."},{"issue":"2","key":"10.1016\/j.ejpn.2025.11.005_bib23","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1038\/s41436-019-0655-2","article-title":"Adapting ACMG\/AMP sequence variant classification guidelines for single-gene copy number variants","volume":"22","author":"Brandt","year":"2020","journal-title":"Genet. Med."},{"issue":"4","key":"10.1016\/j.ejpn.2025.11.005_bib24","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1016\/j.ajhg.2016.08.016","article-title":"REVEL: an ensemble method for predicting the pathogenicity of rare missense variants","volume":"99","author":"Ioannidis","year":"2016","journal-title":"Am. J. Hum. Genet. [Internet]"},{"key":"10.1016\/j.ejpn.2025.11.005_bib25","doi-asserted-by":"crossref","first-page":"9","DOI":"10.5334\/tohm.747","article-title":"Episodic ataxias: primary and secondary etiologies, treatment, and classification approaches","volume":"13","author":"Hassan","year":"2023","journal-title":"Tremor Other Hyperkinet Mov (N Y)."},{"issue":"10","key":"10.1016\/j.ejpn.2025.11.005_bib26","doi-asserted-by":"crossref","first-page":"3603","DOI":"10.3390\/ijms21103603","article-title":"Clinical and genetic overview of paroxysmal movement disorders and episodic ataxias","volume":"21","author":"Garone","year":"2020","journal-title":"Int. J. Mol. Sci."},{"issue":"1\u20132","key":"10.1016\/j.ejpn.2025.11.005_bib27","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1016\/j.jns.2010.01.010","article-title":"Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2","volume":"291","author":"Mantuano","year":"2010","journal-title":"J. Neurol. Sci."},{"issue":"10","key":"10.1016\/j.ejpn.2025.11.005_bib28","doi-asserted-by":"crossref","first-page":"1039","DOI":"10.1111\/j.1468-2982.2008.01645.x","article-title":"Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromes","volume":"28","author":"Cuenca-Le\u00f3n","year":"2008","journal-title":"Cephalalgia"},{"key":"10.1016\/j.ejpn.2025.11.005_bib29","doi-asserted-by":"crossref","DOI":"10.3389\/fped.2020.577544","article-title":"CACNA1A gene variants in eight Chinese patients with a wide range of phenotypes","volume":"8","author":"Zhang","year":"2020","journal-title":"Front. Pediatr."},{"key":"10.1016\/j.ejpn.2025.11.005_bib30","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ebiom.2023.104855","article-title":"Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia","volume":"98","author":"Lyu","year":"2023","journal-title":"EBioMedicine"},{"issue":"23","key":"10.1016\/j.ejpn.2025.11.005_bib31","doi-asserted-by":"crossref","first-page":"2101","DOI":"10.1212\/WNL.0000000000000488","article-title":"DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy","volume":"82","author":"Picard","year":"2014","journal-title":"Neurology"},{"issue":"9","key":"10.1016\/j.ejpn.2025.11.005_bib32","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1136\/jmedgenet-2019-106658","article-title":"Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes","volume":"57","author":"Krenn","year":"2020","journal-title":"J. Med. Genet."},{"issue":"5","key":"10.1016\/j.ejpn.2025.11.005_bib33","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1038\/ng.2601","article-title":"Mutations of DEPDC5 cause autosomal dominant focal epilepsies","volume":"45","author":"Ishida","year":"2013","journal-title":"Nat. Genet."},{"issue":"5","key":"10.1016\/j.ejpn.2025.11.005_bib34","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1038\/ng.2599","article-title":"Mutations in DEPDC5 cause familial focal epilepsy with variable foci","volume":"45","author":"Dibbens","year":"2013","journal-title":"Nat. Genet."},{"issue":"5","key":"10.1016\/j.ejpn.2025.11.005_bib35","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1002\/acn3.542","article-title":"Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish","volume":"5","author":"de Calbiac","year":"2018","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"10.1016\/j.ejpn.2025.11.005_bib36","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1016\/j.jpeds.2021.11.019","article-title":"Genetic spectrum identified by exome sequencing in a Chinese pediatric cerebral palsy cohort","volume":"242","author":"Mei","year":"2022","journal-title":"J. Pediatr."},{"issue":"3","key":"10.1016\/j.ejpn.2025.11.005_bib37","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1055\/s-0038-1651526","article-title":"Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A","volume":"7","author":"Efthymiou","year":"2018","journal-title":"J. Pediatr. Genet."},{"key":"10.1016\/j.ejpn.2025.11.005_bib38","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1016\/j.ejpn.2020.10.006","article-title":"E.U. paediatric MOG consortium consensus: part 1 - classification of clinical phenotypes of paediatric myelin oligodendrocyte glycoprotein antibody-associated disorders","volume":"29","author":"Bruijstens","year":"2020","journal-title":"Eur. J. Paediatr. Neurol."},{"issue":"2","key":"10.1016\/j.ejpn.2025.11.005_bib39","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1007\/s00431-019-03567-6","article-title":"Diagnosis and management of Sandifer syndrome in children with intractable neurological symptoms","volume":"179","author":"Mindlina","year":"2020","journal-title":"Eur. J. Pediatr."},{"issue":"2","key":"10.1016\/j.ejpn.2025.11.005_bib40","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/S0887-8994(02)00417-4","article-title":"Neurologic manifestations of iron deficiency in childhood","volume":"27","author":"Yager","year":"2002","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.ejpn.2025.11.005_bib41","article-title":"Hemiplegic migraine associated with PRRT2 mutations: a clinical and genetic study","author":"Riant","year":"2021","journal-title":"Neurology"},{"issue":"3","key":"10.1016\/j.ejpn.2025.11.005_bib42","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1016\/j.ejpn.2019.03.001","article-title":"Clinical and genetic spectrum of SCN2A -associated episodic ataxia","volume":"23","author":"Schwarz","year":"2019","journal-title":"Eur. J. Paediatr. Neurol."},{"issue":"Pt 4","key":"10.1016\/j.ejpn.2025.11.005_bib43","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1093\/brain\/awu012","article-title":"Episodic ataxia type 1: clinical characterization, quality of life and genotype\u2013phenotype correlation","volume":"137","author":"Graves","year":"2014","journal-title":"Brain"},{"issue":"4","key":"10.1016\/j.ejpn.2025.11.005_bib44","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000200085","article-title":"Ataxia and diplopia: a new SCN8A-Related phenotype","volume":"9","author":"Lalibert\u00e9","year":"2023","journal-title":"Neurol. Genet."},{"issue":"4","key":"10.1016\/j.ejpn.2025.11.005_bib45","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1684\/epd.2018.0988","article-title":"Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy","volume":"20","author":"Pons","year":"2018","journal-title":"Epileptic Disord."}],"container-title":["European Journal of Paediatric Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379825001795?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379825001795?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T19:29:22Z","timestamp":1774294162000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1090379825001795"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":45,"alternative-id":["S1090379825001795"],"URL":"https:\/\/doi.org\/10.1016\/j.ejpn.2025.11.005","relation":{},"ISSN":["1090-3798"],"issn-type":[{"value":"1090-3798","type":"print"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Diagnostic value of genetic testing, with focus on CACNA1A, in children with episodic neurologic disorders: a single-centre retrospective study","name":"articletitle","label":"Article Title"},{"value":"European Journal of Paediatric Neurology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejpn.2025.11.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}