{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T14:55:35Z","timestamp":1787064935767,"version":"build-2736575974"},"reference-count":49,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100003407","name":"Ministero dell\u2019Istruzione, dell\u2019Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003407","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004229","name":"Fondazione Pierfranco e Luisa Mariani","doi-asserted-by":"publisher","award":["739510"],"award-info":[{"award-number":["739510"]}],"id":[{"id":"10.13039\/501100004229","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000781","name":"European Research Council","doi-asserted-by":"publisher","award":["260888"],"award-info":[{"award-number":["260888"]}],"id":[{"id":"10.13039\/501100000781","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["NET-2013-02356160"],"award-info":[{"award-number":["NET-2013-02356160"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"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":[[2021,3]]},"DOI":"10.1016\/j.ejpn.2021.02.006","type":"journal-article","created":{"date-parts":[[2021,2,21]],"date-time":"2021-02-21T07:40:21Z","timestamp":1613893221000},"page":"61-69","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":25,"special_numbering":"C","title":["CASK related disorder: Epilepsy and developmental outcome"],"prefix":"10.1016","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7802-8789","authenticated-orcid":false,"given":"Thea","family":"Giacomini","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1359-5122","authenticated-orcid":false,"given":"Sara","family":"Nuovo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6367-1843","authenticated-orcid":false,"given":"Ginevra","family":"Zanni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5122-4029","authenticated-orcid":false,"given":"Maria Margherita","family":"Mancardi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8047-8375","authenticated-orcid":false,"given":"Raffaella","family":"Cusmai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0880-6140","authenticated-orcid":false,"given":"Chiara","family":"Pepi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9276-4590","authenticated-orcid":false,"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0600-6820","authenticated-orcid":false,"given":"Enza Maria","family":"Valente","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7889-1355","authenticated-orcid":false,"given":"Roberta","family":"Battini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5397-6184","authenticated-orcid":false,"given":"Annarita","family":"Ferrari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8709-6732","authenticated-orcid":false,"given":"Romina","family":"Romaniello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7621-2542","authenticated-orcid":false,"given":"Claudio","family":"Zucca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8165-4994","authenticated-orcid":false,"given":"Renato","family":"Borgatti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4164-2125","authenticated-orcid":false,"given":"Sara","family":"Uccella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4730-5322","authenticated-orcid":false,"given":"Mariasavina","family":"Severino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6065-1476","authenticated-orcid":false,"given":"Pasquale","family":"Striano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6895-8720","authenticated-orcid":false,"given":"Angela","family":"Pistorio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6634-2474","authenticated-orcid":false,"given":"Giulia","family":"Prato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9733-9216","authenticated-orcid":false,"given":"Elisa","family":"De Grandis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9317-5405","authenticated-orcid":false,"given":"Lino","family":"Nobili","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7653-981X","authenticated-orcid":false,"given":"Livia","family":"Pisciotta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"10","key":"10.1016\/j.ejpn.2021.02.006_bib1","doi-asserted-by":"crossref","first-page":"1034","DOI":"10.1002\/humu.20564","article-title":"Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes","volume":"28","author":"Froyen","year":"2007","journal-title":"Hum. Mutat."},{"issue":"16","key":"10.1016\/j.ejpn.2021.02.006_bib2","doi-asserted-by":"crossref","first-page":"2145","DOI":"10.1002\/ajmg.a.32433","article-title":"The CASK gene harbored in a deletion detected by array-cgh as a potential candidate for a gene causative of X-linked dominant mental retardation","volume":"146","author":"Hayashi","year":"2008","journal-title":"Am. J. Med. Genet."},{"issue":"9","key":"10.1016\/j.ejpn.2021.02.006_bib3","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1038\/ng.194","article-title":"Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum","volume":"40","author":"Najm","year":"2008","journal-title":"Nat. Genet."},{"issue":"10","key":"10.1016\/j.ejpn.2021.02.006_bib4","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1007\/s003350010170","article-title":"Mapping and expression analysis of the human CASK gene","volume":"11","author":"Stevenson","year":"2000","journal-title":"Mamm. Genome"},{"issue":"16","key":"10.1016\/j.ejpn.2021.02.006_bib5","doi-asserted-by":"crossref","first-page":"1915","DOI":"10.2174\/092986706777585040","article-title":"The role of the MAGUK protein CASK in neural development and synaptic function","volume":"13","author":"Hsueh","year":"2006","journal-title":"Curr. Med. Chem."},{"issue":"2","key":"10.1016\/j.ejpn.2021.02.006_bib6","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/j.ajhg.2008.12.018","article-title":"A\u00a0missense in CASK causes FG syndrome in an Italian family","volume":"84","author":"Piluso","year":"2009","journal-title":"Am. J. Hum. Genet."},{"issue":"5","key":"10.1016\/j.ejpn.2021.02.006_bib7","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1038\/ejhg.2009.220","article-title":"CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes","volume":"18","author":"Hackett","year":"2010","journal-title":"Eur. J. Hum. Genet."},{"issue":"11","key":"10.1016\/j.ejpn.2021.02.006_bib8","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1136\/jmedgenet-2011-100218","article-title":"Phenotypic spectrum associated with CASK loss-of-function mutations","volume":"48","author":"Moog","year":"2011","journal-title":"J.\u00a0Med. Genet."},{"issue":"1","key":"10.1016\/j.ejpn.2021.02.006_bib9","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1186\/1750-1172-7-18","article-title":"Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient","volume":"7","author":"Burglen","year":"2012","journal-title":"Orphanet J. Rare Dis."},{"issue":"1","key":"10.1016\/j.ejpn.2021.02.006_bib10","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1007\/s00439-011-1047-0","article-title":"Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)","volume":"131","author":"Hayashi","year":"2012","journal-title":"Hum. Genet."},{"issue":"2","key":"10.1016\/j.ejpn.2021.02.006_bib11","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0088276","article-title":"Identification and glycerol-induced correction of misfolding mutations in the X-linked mental retardation gene CASK","volume":"9","author":"LaConte","year":"2014","journal-title":"PloS One"},{"issue":"1","key":"10.1016\/j.ejpn.2021.02.006_bib12","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1186\/s13023-015-0256-3","article-title":"Phenotypic and molecular insights into CASK-related disorders in males","volume":"10","author":"Moog","year":"2015","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ejpn.2021.02.006_bib13","first-page":"242","article-title":"Patterns and rates of exonic de novo mutations in autism spectrum disorders","author":"Devlin","year":"2012","journal-title":"Nature"},{"issue":"9","key":"10.1016\/j.ejpn.2021.02.006_bib14","doi-asserted-by":"crossref","first-page":"1619","DOI":"10.3174\/ajnr.A2173","article-title":"Neuroradiologic features of CASK mutations","volume":"31","author":"Takanashi","year":"2010","journal-title":"Am. J. Neuroradiol."},{"issue":"12","key":"10.1016\/j.ejpn.2021.02.006_bib15","doi-asserted-by":"crossref","first-page":"3112","DOI":"10.1002\/ajmg.a.35640","article-title":"Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations","volume":"158","author":"Takanashi","year":"2012","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejpn.2021.02.006_bib16","series-title":"CASK Disorders","author":"Moog","year":"1993"},{"issue":"8","key":"10.1016\/j.ejpn.2021.02.006_bib17","doi-asserted-by":"crossref","first-page":"1441","DOI":"10.1111\/j.1528-1167.2012.03548.x","article-title":"CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia","volume":"53","author":"Saitsu","year":"2012","journal-title":"Epilepsia"},{"issue":"18","key":"10.1016\/j.ejpn.2021.02.006_bib18","doi-asserted-by":"crossref","first-page":"4846","DOI":"10.1093\/hmg\/ddu199","article-title":"The genetic landscape of infantile spasms","volume":"23","author":"Michaud","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejpn.2021.02.006_bib19","series-title":"Normal Psychomotor Development","first-page":"3","author":"Cioni","year":"2013"},{"issue":"3","key":"10.1016\/j.ejpn.2021.02.006_bib20","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1111\/ahg.12294","article-title":"Diagnostic approach with genetic tests for global developmental delay and\/or intellectual disability: single tertiary center experience","volume":"83","author":"Han","year":"2019","journal-title":"Ann. Hum. Genet."},{"issue":"2","key":"10.1016\/j.ejpn.2021.02.006_bib21","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/S0022-3476(95)70294-6","article-title":"Diagnostic yield of the neurologic assessment of the developmentally delayed child","volume":"127","author":"Majnemer","year":"1995","journal-title":"J.\u00a0Pediatr."},{"issue":"7","key":"10.1016\/j.ejpn.2021.02.006_bib22","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1111\/j.1528-1167.2009.02211.x","article-title":"Guidelines for EEG in encephalopathy related to ESES\/CSWS in children","volume":"50","author":"Scheltens-de Boer","year":"2009","journal-title":"Epilepsia"},{"issue":"4","key":"10.1016\/j.ejpn.2021.02.006_bib23","first-page":"298","volume":"26","author":"Mikati","year":"2002","journal-title":"Efficacy of Intravenous Immunoglobulin in Landau-Kleffner Syndrome"},{"issue":"1","key":"10.1016\/j.ejpn.2021.02.006_bib24","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1016\/j.yebeh.2009.02.030","article-title":"Drug treatment of epilepsy: options and limitations","volume":"15","author":"Schmidt","year":"2009","journal-title":"Epilepsy Behav."},{"key":"10.1016\/j.ejpn.2021.02.006_bib25","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/j.neulet.2019.02.025","article-title":"The CNTNAP2-CASK complex modulates GluA1 subcellular distribution in interneurons","volume":"701","author":"Gao","year":"2019","journal-title":"Neurosci. Lett."},{"issue":"6","key":"10.1016\/j.ejpn.2021.02.006_bib26","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1016\/S0092-8674(00)81736-5","article-title":"A\u00a0tripartite protein complex with the potential to couple synaptic vesicle exocytosis to cell adhesion in brain","volume":"94","author":"Butz","year":"1998","journal-title":"Cell"},{"issue":"4","key":"10.1016\/j.ejpn.2021.02.006_bib27","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1002\/ana.21755","article-title":"Calcium\/calmodulin-dependent serine protein kinase and mental retardation","volume":"66","author":"Hsueh","year":"2009","journal-title":"Ann. Neurol."},{"issue":"1","key":"10.1016\/j.ejpn.2021.02.006_bib28","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/j.jprot.2008.10.005","article-title":"Proteomics analysis of immuno-precipitated synaptic protein complexes","volume":"72","author":"Klemmer","year":"2009","journal-title":"J\u00a0Proteomics"},{"issue":"3","key":"10.1016\/j.ejpn.2021.02.006_bib29","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1007\/s00439-018-1874-3","article-title":"Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK\u2013neurexin interaction","volume":"137","author":"LaConte","year":"2018","journal-title":"Hum. Genet."},{"issue":"9","key":"10.1016\/j.ejpn.2021.02.006_bib30","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1016\/j.braindev.2015.02.007","article-title":"Late-onset epileptic spasms in a female patient with a CASK mutation","volume":"37","author":"Nakajiri","year":"2015","journal-title":"Brain Dev."},{"issue":"4","key":"10.1016\/j.ejpn.2021.02.006_bib31","doi-asserted-by":"crossref","first-page":"529","DOI":"10.4067\/S0370-41062017000400014","article-title":"Hipoplasia pontocerebelosa secundaria a deleci\u00f3n en el gen CASK: caso cl\u00ednico","volume":"88","author":"Rivas","year":"2017","journal-title":"Rev. Chil. Pediatr."},{"issue":"11","key":"10.1016\/j.ejpn.2021.02.006_bib32","doi-asserted-by":"crossref","first-page":"2425","DOI":"10.1002\/ajmg.a.40429","article-title":"A\u00a0de novo in-frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient","volume":"176","author":"Bozarth","year":"2018","journal-title":"Am. J. Med. Genet."},{"issue":"4","key":"10.1016\/j.ejpn.2021.02.006_bib33","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1016\/j.ejpn.2014.03.005","article-title":"Late onset epileptic spasms is frequent in MECP2 gene duplication: electroclinical features and long-term follow-up of 8 epilepsy patients","volume":"18","author":"Caumes","year":"2014","journal-title":"Eur. J. Paediatr. Neurol."},{"issue":"2","key":"10.1016\/j.ejpn.2021.02.006_bib34","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1177\/0883073814532547","article-title":"Late-onset epileptic spasms","volume":"30","author":"Ronzano","year":"2015","journal-title":"J.\u00a0Child Neurol."},{"issue":"4","key":"10.1016\/j.ejpn.2021.02.006_bib35","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1055\/s-0035-1554099","article-title":"Etiology and long-term outcomes of late-onset infantile spasms","volume":"46","author":"Mets\u00e4honkala","year":"2015","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.ejpn.2021.02.006_bib36","series-title":"Delta and Spindle Components in Compressed Spectral Array during Nocturnal Sleep in Infants with Cerebral Palsy 1986","first-page":"493","author":"Kiyono","year":"1979"},{"issue":"2","key":"10.1016\/j.ejpn.2021.02.006_bib37","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.braindev.2008.06.006","article-title":"Sleep spindle alterations in patients with malformations of cortical development","volume":"31","author":"Selvitelli","year":"2009","journal-title":"Brain Dev."},{"issue":"5","key":"10.1016\/j.ejpn.2021.02.006_bib38","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1016\/S0387-7604(01)00231-5","article-title":"Clinical and EEG findings in 18 cases of late infantile neuronal ceroid lipofuscinosis","volume":"23","author":"Veneselli","year":"2001","journal-title":"Brain Dev."},{"key":"10.1016\/j.ejpn.2021.02.006_bib39","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1155\/2016\/4724792","article-title":"Sleep spindle characteristics in children with neurodevelopmental disorders and their relation to cognition","volume":"2016","author":"Gruber","year":"2016","journal-title":"Neural Plast."},{"issue":"3545","key":"10.1016\/j.ejpn.2021.02.006_bib40","doi-asserted-by":"crossref","first-page":"1106","DOI":"10.1126\/science.138.3545.1106","article-title":"Extreme spindles: correlation of electroencephalographic sleep pattern with mental retardation","volume":"138","author":"Gibbs","year":"1962","journal-title":"Science"},{"issue":"4","key":"10.1016\/j.ejpn.2021.02.006_bib41","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/S0387-7604(79)80042-X","article-title":"The evolution of electroencephalographic features in lissencephaly syndrome","volume":"1","author":"Hakamada","year":"1979","journal-title":"Brain Dev."},{"issue":"6","key":"10.1016\/j.ejpn.2021.02.006_bib42","doi-asserted-by":"crossref","first-page":"1096","DOI":"10.1212\/01.WNL.0000154467.17312.7B","article-title":"Extreme spindles: a distinctive EEG pattern in Mycoplasma pneumoniae encephalitis","volume":"64","author":"Heatwole","year":"2005","journal-title":"Neurology"},{"issue":"3","key":"10.1016\/j.ejpn.2021.02.006_bib43","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1097\/WNP.0b013e31821c3ad5","article-title":"Increased sleep spindle activity in patients with Costello syndrome (HRAS gene mutation)","volume":"28","author":"Marca","year":"2011","journal-title":"J.\u00a0Clin. Neurophysiol."},{"issue":"2","key":"10.1016\/j.ejpn.2021.02.006_bib44","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1016\/j.braindev.2018.09.001","article-title":"Transient extreme spindles in a young child with anti-NMDAR encephalitis: a case report","volume":"41","author":"Tokunaga","year":"2019","journal-title":"Brain Dev."},{"issue":"7","key":"10.1016\/j.ejpn.2021.02.006_bib45","doi-asserted-by":"crossref","first-page":"669","DOI":"10.3390\/cells8070669","article-title":"Epilepsy in tubulinopathy: personal series and literature review","volume":"8","author":"Romaniello","year":"2019","journal-title":"Cells"},{"issue":"1","key":"10.1016\/j.ejpn.2021.02.006_bib46","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1523\/JNEUROSCI.2030-12.2013","article-title":"Individual differences in white matter diffusion affect sleep oscillations","volume":"33","author":"Piantoni","year":"2013","journal-title":"J.\u00a0Neurosci."},{"issue":"1","key":"10.1016\/j.ejpn.2021.02.006_bib47","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1152\/jn.1997.78.1.335","article-title":"Intracellular and computational characterization of the intracortical inhibitory control of synchronized thalamic inputs in\u00a0vivo","volume":"78","author":"Contreras","year":"1997","journal-title":"J.\u00a0Neurophysiol."},{"key":"10.1016\/j.ejpn.2021.02.006_bib48","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1016\/j.braindev.2013.03.007","article-title":"A\u00a0de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot","author":"Nakamura","year":"2014","journal-title":"Brain Dev."},{"issue":"8","key":"10.1016\/j.ejpn.2021.02.006_bib49","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0181791","article-title":"Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)","volume":"12","author":"Hayashi","year":"2017","journal-title":"PloS One"}],"container-title":["European Journal of Paediatric Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379821000386?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379821000386?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T18:37:48Z","timestamp":1761071868000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1090379821000386"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3]]},"references-count":49,"alternative-id":["S1090379821000386"],"URL":"https:\/\/doi.org\/10.1016\/j.ejpn.2021.02.006","relation":{},"ISSN":["1090-3798"],"issn-type":[{"value":"1090-3798","type":"print"}],"subject":[],"published":{"date-parts":[[2021,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"CASK related disorder: Epilepsy and developmental outcome","name":"articletitle","label":"Article Title"},{"value":"European Journal of Paediatric Neurology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejpn.2021.02.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}