{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T13:14:51Z","timestamp":1775308491167,"version":"3.50.1"},"reference-count":20,"publisher":"Impact Journals, LLC","issue":"45","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Oncotarget"],"published-print":{"date-parts":[[2017,10,3]]},"DOI":"10.18632\/oncotarget.20694","type":"journal-article","created":{"date-parts":[[2017,9,7]],"date-time":"2017-09-07T21:11:49Z","timestamp":1504818709000},"page":"78940-78947","source":"Crossref","is-referenced-by-count":20,"title":["Exome sequencing identified a novel missense mutation c.464G&gt;A (p.G155D) in Ca2+-binding protein 4 (<i>CABP4<\/i>) in a Chinese pedigree with autosomal dominant nocturnal frontal lobe epilepsy"],"prefix":"10.18632","volume":"8","author":[{"given":"Zhi-Hong","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Guangdong General Hospital, Guangdong Academy of Neuroscience, Guangdong Academy of Medical Sciences, Guangzhou 510080, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chun","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Guangdong General Hospital, Guangdong Academy of Neuroscience, Guangdong Academy of Medical Sciences, Guangzhou 510080, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mu-Qing","family":"Zhuo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Guangdong General Hospital, Guangdong Academy of Neuroscience, Guangdong Academy of Medical Sciences, Guangzhou 510080, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiong-Xiang","family":"Zhai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Guangdong General Hospital, Guangdong Academy of Neuroscience, Guangdong Academy of Medical Sciences, Guangzhou 510080, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qian","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Guangdong General Hospital, Guangdong Academy of Neuroscience, Guangdong Academy of Medical Sciences, Guangzhou 510080, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu-Xiong","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Guangdong General Hospital, Guangdong Academy of Neuroscience, Guangdong Academy of Medical Sciences, Guangzhou 510080, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu-Xin","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Guangdong General Hospital, Guangdong Academy of Neuroscience, Guangdong Academy of Medical Sciences, Guangzhou 510080, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan","family":"Gui","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Guangdong General Hospital, Guangdong Academy of Neuroscience, Guangdong Academy of Medical Sciences, Guangzhou 510080, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhi-Hong","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Guangdong General Hospital, Guangdong Academy of Neuroscience, Guangdong Academy of Medical Sciences, Guangzhou 510080, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao-Lu","family":"Zeng","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Guangdong General Hospital, Guangdong Academy of Neuroscience, Guangdong Academy of Medical Sciences, Guangzhou 510080, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"7892","published-online":{"date-parts":[[2017,9,5]]},"reference":[{"key":"1","first-page":"61","article-title":"Autosomal dominant nocturnal frontal lobe epilepsy","volume":"118","author":"Berkovic","year":"1995","journal-title":"A distinctive clinical disorder. Brain"},{"key":"2","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1038\/ng1095-201","article-title":"A missense mutation in the neuronal nicotinic acetylcholine receptor \u03b14 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy","volume":"11","author":"Berkovic","year":"1995","journal-title":"Nat Genet"},{"key":"3","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1093\/brain\/121.2.205","article-title":"Autosomal dominant nocturnal frontal lobe epilepsy. A video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome","volume":"121","author":"Ferini-Strambi","year":"1998","journal-title":"Brain"},{"key":"4","doi-asserted-by":"crossref","first-page":"1048","DOI":"10.1038\/mp.2010.78","article-title":"Altered activity-rest patterns in mice with a human autosomal-dominant nocturnal frontal lobe epilepsy mutation in the \u03b22 nicotinic receptor","volume":"16","author":"Contractor","year":"2011","journal-title":"Mol Psychiatry"},{"key":"5","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1016\/j.pbb.2012.10.014","article-title":"Mice expressing the ADNFLE valine 287 leucine mutation of the \u03922 nicotinic acetylcholine receptor subunit display increased sensitivity to acute nicotine administration and altered presynaptic nicotinic receptor function","volume":"103","author":"Marks","year":"2013","journal-title":"Pharmacol Biochem Behav"},{"key":"6","doi-asserted-by":"crossref","first-page":"1188","DOI":"10.1038\/ng.2440","article-title":"Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy","volume":"44","author":"Berkovic","year":"2012","journal-title":"Nat Genet"},{"key":"7","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1016\/j.seizure.2011.10.003","article-title":"Mutations in familial nocturnal frontal lobe epilepsy might be associated with distinct neurological phenotypes","volume":"21","author":"Bertrand","year":"2012","journal-title":"Seizure"},{"key":"8","doi-asserted-by":"crossref","first-page":"1113","DOI":"10.1046\/j.1528-1157.2003.07603.x","article-title":"Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy","volume":"44","author":"Trzeciak","year":"2003","journal-title":"Epilepsia"},{"key":"9","doi-asserted-by":"crossref","first-page":"1247","DOI":"10.1074\/jbc.275.2.1247","article-title":"Five members of a novel Ca2+-binding protein (CABP) subfamily with similarity to calmodulin","volume":"275","author":"Palczewski","year":"2000","journal-title":"J Biol Chem"},{"key":"10","first-page":"233","article-title":"Ca2+-binding proteins in the retina: from discovery to etiology of human disease","volume":"1498","author":"Palczewski","year":"2000","journal-title":"Biochim Biophys Acta"},{"key":"11","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1038\/nn1320","article-title":"Essential role of Ca2+-binding protein 4, a Cav1.4 channel regulator, in photoreceptor synaptic function","volume":"7","author":"Palczewski","year":"2004","journal-title":"Nat Neurosci"},{"key":"12","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1086\/508067","article-title":"Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness","volume":"79","author":"Berger","year":"2006","journal-title":"Am J Hum Genet"},{"key":"13","doi-asserted-by":"crossref","first-page":"2344","DOI":"10.1167\/iovs.08-2553","article-title":"A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder","volume":"50","author":"van den Born","year":"2009","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"14","first-page":"207","article-title":"A null mutation in CABP4 causes Leber\u2019s congenital amaurosis-like phenotype","volume":"16","author":"Alkuraya","year":"2010","journal-title":"Mol Vis"},{"key":"15","doi-asserted-by":"crossref","first-page":"4320","DOI":"10.1167\/iovs.05-0478","article-title":"A critical role of CaBP4 in the cone synapse","volume":"46","author":"Haeseleer","year":"2005","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"16","doi-asserted-by":"crossref","first-page":"36312","DOI":"10.1074\/jbc.M112.392811","article-title":"Complex regulation of voltage-dependent activation and inactivation properties of retinal voltage-gated Cav1. 4 L-type Ca2+ channels by Ca2+-binding protein 4 (CaBP4)","volume":"287","author":"Wahl-Schott","year":"2012","journal-title":"J Biol Chem"},{"key":"17","doi-asserted-by":"crossref","first-page":"31262","DOI":"10.1074\/jbc.M114.604439","article-title":"Structural Insights into Activation of the Retinal L-type Ca2+ Channel (Cav1.4) by Ca2+-binding Protein 4 (CaBP4)","volume":"289","author":"Ames","year":"2014","journal-title":"J Biol Chem"},{"key":"18","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Sunyaev","year":"2010","journal-title":"Nat Methods"},{"key":"19","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm","volume":"4","author":"Ng","year":"2009","journal-title":"Nat Protoc"},{"key":"20","doi-asserted-by":"crossref","first-page":"1250","DOI":"10.1093\/bioinformatics\/18.9.1250","article-title":"ESyPred3D: Prediction of proteins 3D structures","volume":"18","author":"Depiereux","year":"2002","journal-title":"Bioinformatics"}],"container-title":["Oncotarget"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.oncotarget.com\/lookup\/doi\/10.18632\/oncotarget.20694","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,11]],"date-time":"2020-05-11T13:18:11Z","timestamp":1589203091000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.oncotarget.com\/lookup\/doi\/10.18632\/oncotarget.20694"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9,5]]},"references-count":20,"journal-issue":{"issue":"45","published-print":{"date-parts":[[2017,10,3]]}},"alternative-id":["20694","29108277"],"URL":"https:\/\/doi.org\/10.18632\/oncotarget.20694","relation":{},"ISSN":["1949-2553"],"issn-type":[{"value":"1949-2553","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,9,5]]}}}