{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T02:56:43Z","timestamp":1782874603388,"version":"3.54.5"},"reference-count":22,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,9,1]],"date-time":"2020-09-01T00:00:00Z","timestamp":1598918400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,9,1]],"date-time":"2020-09-01T00:00:00Z","timestamp":1598918400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100008729","name":"Yokohama Foundation for Advanced Medical Science","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008729","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007962","name":"Jikei University School of Medicine","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007962","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jns-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of the Neurological Sciences"],"published-print":{"date-parts":[[2020,9]]},"DOI":"10.1016\/j.jns.2020.117047","type":"journal-article","created":{"date-parts":[[2020,7,17]],"date-time":"2020-07-17T04:01:21Z","timestamp":1594958481000},"page":"117047","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":23,"special_numbering":"C","title":["De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies"],"prefix":"10.1016","volume":"416","author":[{"given":"Misako","family":"Kunii","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Doi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shunta","family":"Hashiguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toyojiro","family":"Matsuishi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasunari","family":"Sakai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mizue","family":"Iai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masaki","family":"Okubo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haruko","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keita","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsuko","family":"Katsumoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikiko","family":"Tada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideyuki","family":"Takeuchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taro","family":"Ishikawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriko","family":"Miyake","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirotomo","family":"Saitsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fumiaki","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jns.2020.117047_bb0005","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1152\/physrev.00018.2002","article-title":"Molecular physiology of low-voltage-activated T-type calcium channels","volume":"83","author":"Perez-Reyes","year":"2003","journal-title":"Physiol. Rev."},{"key":"10.1016\/j.jns.2020.117047_bb0010","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1007\/s00424-009-0772-x","article-title":"Role of voltage-gated calcium channels in epilepsy","volume":"460","author":"Zamponi","year":"2010","journal-title":"Pfl\u00fcg. Arch. - Eur. J. Physiol."},{"key":"10.1016\/j.jns.2020.117047_bb0015","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1124\/pr.114.009654","article-title":"The physiology, pathology, and pharmacology of voltage-gated calcium channels and their future therapeutic potential","volume":"67","author":"Zamponi","year":"2015","journal-title":"Pharmacol. Rev."},{"key":"10.1016\/j.jns.2020.117047_bb0020","doi-asserted-by":"crossref","first-page":"1895","DOI":"10.1523\/JNEUROSCI.19-06-01895.1999","article-title":"Differential distribution of three members of a gene family encoding low voltage-activated (T-type) calcium channels","volume":"19","author":"Talley","year":"1999","journal-title":"J. Neurosci."},{"key":"10.1016\/j.jns.2020.117047_bb0025","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1002\/humu.9491","article-title":"Mutational analysis of CACNA1G in idiopathic generalized epilepsy","volume":"28","author":"Singh","year":"2007","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.jns.2020.117047_bb0030","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1038\/mp.2009.41","article-title":"High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene","volume":"15","author":"Strom","year":"2010","journal-title":"Mol. Psychiatry"},{"key":"10.1016\/j.jns.2020.117047_bb0035","doi-asserted-by":"crossref","DOI":"10.1016\/j.ajhg.2015.09.007","article-title":"A recurrent mutation in CACNA1G alters Cav3.1 T-type calcium-channel conduction and causes autosomal-dominant cerebellar Ataxia","author":"Coutelier","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jns.2020.117047_bb0040","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1186\/s13041-015-0180-4","article-title":"A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia","volume":"8","author":"Morino","year":"2015","journal-title":"Mol. Brain."},{"key":"10.1016\/j.jns.2020.117047_bb0045","doi-asserted-by":"crossref","first-page":"1998","DOI":"10.1093\/brain\/awy145","article-title":"De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene","volume":"141","author":"Chemin","year":"2018","journal-title":"Brain."},{"key":"10.1016\/j.jns.2020.117047_bb0050","article-title":"Infantile-onset syndromic cerebellar ataxia and CACNA1G mutations","author":"Barresi","year":"2019","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.jns.2020.117047_bb0055","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1038\/ng.2562","article-title":"De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood","volume":"45","author":"Saitsu","year":"2013","journal-title":"Nat. Genet."},{"key":"10.1016\/j.jns.2020.117047_bb0060","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1038\/ng.150","article-title":"De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy","volume":"40","author":"Saitsu","year":"2008","journal-title":"Nat. Genet."},{"key":"10.1016\/j.jns.2020.117047_bb0065","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."},{"key":"10.1016\/j.jns.2020.117047_bb0070","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1152\/jn.1994.71.2.583","article-title":"Low-threshold calcium current and resonance in thalamic neurons: a model of frequency preference","volume":"71","author":"Hutcheon","year":"1994","journal-title":"J. Neurophysiol."},{"key":"10.1016\/j.jns.2020.117047_bb0075","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1016\/S0166-2236(00)01547-2","article-title":"Resonance, oscillation and the intrinsic frequency preferences of neurons","volume":"23","author":"Hutcheon","year":"2000","journal-title":"Trends Neurosci."},{"key":"10.1016\/j.jns.2020.117047_bb0080","doi-asserted-by":"crossref","first-page":"2389","DOI":"10.1111\/ejn.13796","article-title":"Neuronal oscillations: unavoidable and useful?","volume":"48","author":"Singer","year":"2018","journal-title":"Eur. J. Neurosci."},{"key":"10.1016\/j.jns.2020.117047_bb0085","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1152\/jn.00919.2004","article-title":"LFP power spectra in V1 cortex: the graded effect of stimulus contrast","volume":"94","author":"Henrie","year":"2005","journal-title":"J. Neurophysiol."},{"key":"10.1016\/j.jns.2020.117047_bb0090","doi-asserted-by":"crossref","first-page":"1560","DOI":"10.1126\/science.1055465","article-title":"Modulation of oscillatory neuronal synchronization by selective visual attention","volume":"291","author":"Fries","year":"2001","journal-title":"Science."},{"key":"10.1016\/j.jns.2020.117047_bb0095","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1002\/(SICI)1098-1063(1999)9:2<137::AID-HIPO5>3.0.CO;2-0","article-title":"High-frequency oscillations in human brain","volume":"9","author":"Bragin","year":"1999","journal-title":"Hippocampus."},{"key":"10.1016\/j.jns.2020.117047_bb0100","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1016\/j.pneurobio.2012.02.005","article-title":"Mechanisms of physiological and epileptic HFO generation","volume":"98","author":"Jefferys","year":"2012","journal-title":"Prog. Neurobiol."},{"key":"10.1016\/j.jns.2020.117047_bb0105","doi-asserted-by":"crossref","first-page":"6648","DOI":"10.1523\/JNEUROSCI.20-17-06648.2000","article-title":"Neuronal and glial membrane potentials during sleep and paroxysmal oscillations in the neocortex","volume":"20","author":"Amzica","year":"2000","journal-title":"J. Neurosci."},{"key":"10.1016\/j.jns.2020.117047_bb0110","doi-asserted-by":"crossref","first-page":"9533","DOI":"10.1073\/pnas.132259899","article-title":"Cortical hyperpolarization-activated depolarizing current takes part in the generation of focal paroxysmal activities","volume":"99","author":"Timofeev","year":"2002","journal-title":"Proc. Natl. Acad. Sci."}],"container-title":["Journal of the Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X20303841?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X20303841?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T15:54:40Z","timestamp":1758383680000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022510X20303841"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9]]},"references-count":22,"alternative-id":["S0022510X20303841"],"URL":"https:\/\/doi.org\/10.1016\/j.jns.2020.117047","relation":{},"ISSN":["0022-510X"],"issn-type":[{"value":"0022-510X","type":"print"}],"subject":[],"published":{"date-parts":[[2020,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies","name":"articletitle","label":"Article Title"},{"value":"Journal of the Neurological Sciences","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jns.2020.117047","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"117047"}}