{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T08:12:23Z","timestamp":1770883943026,"version":"3.50.1"},"reference-count":20,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2019,9,1]],"date-time":"2019-09-01T00:00:00Z","timestamp":1567296000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","brainanddevelopment.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Brain and Development"],"published-print":{"date-parts":[[2019,9]]},"DOI":"10.1016\/j.braindev.2019.03.009","type":"journal-article","created":{"date-parts":[[2019,4,2]],"date-time":"2019-04-02T13:05:31Z","timestamp":1554210331000},"page":"706-715","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":13,"title":["Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10"],"prefix":"10.1016","volume":"41","author":[{"given":"Ali","family":"Mir","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed","family":"Chaudhary","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hani","family":"Alkhaldi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rami","family":"Alhazmi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raidah","family":"Albaradie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yousef","family":"Housawi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.braindev.2019.03.009_b0005","doi-asserted-by":"crossref","first-page":"1960","DOI":"10.1056\/NEJMoa0810276","article-title":"Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations","volume":"360","author":"Bockenhauer","year":"2009","journal-title":"N Engl J Med"},{"key":"10.1016\/j.braindev.2019.03.009_b0010","doi-asserted-by":"crossref","first-page":"5842","DOI":"10.1073\/pnas.0901749106","article-title":"Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10","volume":"106","author":"Scholl","year":"2009","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.braindev.2019.03.009_b0015","doi-asserted-by":"crossref","first-page":"846","DOI":"10.1111\/dmcn.12171","article-title":"Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome","volume":"55","author":"Cross","year":"2013","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.braindev.2019.03.009_b0020","doi-asserted-by":"crossref","first-page":"2081","DOI":"10.1007\/s00467-012-2219-4","article-title":"SeSAME\/EAST syndrome\u2013phenotypic variability and delayed activity of the distal convoluted tubule","volume":"27","author":"Scholl","year":"2012","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.braindev.2019.03.009_b0025","first-page":"5","article-title":"Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome in a European child with KCNJ10 mutations: A case report","author":"Papavasiliou","year":"2017","journal-title":"SAGE Open Med Case Rep"},{"key":"10.1016\/j.braindev.2019.03.009_b0030","article-title":"EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10","volume":"4","author":"Abdelhadi","year":"2016","journal-title":"Rare Dis"},{"key":"10.1016\/j.braindev.2019.03.009_b0035","doi-asserted-by":"crossref","first-page":"20942","DOI":"10.1074\/jbc.M113.470948","article-title":"Carbamazepine as a novel small molecule corrector of trafficking-impaired ATP-sensitive potassium channels identified in congenital hyperinsulinism","volume":"288","author":"Chen","year":"2013","journal-title":"J Biol Chem"},{"key":"10.1016\/j.braindev.2019.03.009_b0040","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1002\/1531-8249(200010)48:4<647::AID-ANA12>3.0.CO;2-Q","article-title":"Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability","volume":"48","author":"Eunson","year":"2000","journal-title":"Ann Neurol"},{"key":"10.1016\/j.braindev.2019.03.009_b0045","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1212\/WNL.37.3.379","article-title":"Valproic acid hepatic fatalities: a retrospective review","volume":"37","author":"Dreifuss","year":"1987","journal-title":"Neurology"},{"key":"10.1016\/j.braindev.2019.03.009_b0050","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1136\/jnnp.69.5.636","article-title":"Effects of topiramate on cognitive function","volume":"69","author":"Thompson","year":"2000","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.braindev.2019.03.009_b0055","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/s13760-012-0113-2","article-title":"KCNJ10 gene mutation in an 8-year-old boy with seizures","volume":"113","author":"Kara","year":"2013","journal-title":"Acta Neurol Belg"},{"key":"10.1016\/j.braindev.2019.03.009_b0060","doi-asserted-by":"crossref","first-page":"2117","DOI":"10.1681\/ASN.2009121227","article-title":"Molecular basis of decreased Kir4.1 function in SeSAME\/EAST syndrome","volume":"21","author":"Williams","year":"2010","journal-title":"J Am Soc Nephrol"},{"key":"10.1016\/j.braindev.2019.03.009_b0065","doi-asserted-by":"crossref","first-page":"14490","DOI":"10.1073\/pnas.1003072107","article-title":"KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sesnsorineural deafness, and tubulopathy) disrupt channel disfunction","author":"Reichold","year":"2010","journal-title":"PNAS"},{"key":"10.1016\/j.braindev.2019.03.009_b0070","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1159\/000356353","article-title":"KCNJ10 mutations display differential sensitivity to Heteromerisation with KCNJ16","author":"Parrock","year":"2013","journal-title":"Nephron Physiol"},{"key":"10.1016\/j.braindev.2019.03.009_b0075","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1002\/mgg3.227","article-title":"Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome","volume":"4","author":"Abdelhadi","year":"2016","journal-title":"Mol Genet and Genomic Med"},{"key":"10.1016\/j.braindev.2019.03.009_b0080","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1159\/000330250","article-title":"KCNJ10 mutations disrupt function in patients with EAST syndrome","author":"Freudenthal","year":"2011","journal-title":"Nephron Physiol"},{"key":"10.1016\/j.braindev.2019.03.009_b0085","doi-asserted-by":"crossref","first-page":"1681","DOI":"10.1113\/jphysiol.2010.198531","article-title":"Altered electroretiongrams in patients with with KCNJ10 mutations and EAST syndrome","volume":"589","author":"Thompson","year":"2011","journal-title":"J Physiol"},{"key":"10.1016\/j.braindev.2019.03.009_b0090","doi-asserted-by":"crossref","first-page":"36040","DOI":"10.1074\/jbc.M110.163170","article-title":"Molecular mechanisms of EAST\/SeSAME syndrome mutations in Kir4.1 (KCNJ10)","volume":"285","author":"Sala-Rabanal","year":"2010","journal-title":"J Biol Chem"},{"key":"10.1016\/j.braindev.2019.03.009_b0095","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1016\/j.bbrc.2010.07.105","article-title":"Variable loss of Kir4.1 channel function in SeSAME syndrome mutations","volume":"399","author":"Tang","year":"2010","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.braindev.2019.03.009_b0100","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1111\/cge.13374","article-title":"Inashkina I. EAST\/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients","author":"Celmina","year":"2019","journal-title":"Clin Genet"}],"updated-by":[{"DOI":"10.1016\/j.braindev.2019.06.007","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2019,9,1]],"date-time":"2019-09-01T00:00:00Z","timestamp":1567296000000}}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760418301268?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760418301268?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,9,19]],"date-time":"2019-09-19T14:13:34Z","timestamp":1568902414000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760418301268"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,9]]},"references-count":20,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2019,9]]}},"alternative-id":["S0387760418301268"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2019.03.009","relation":{"erratum":[{"id-type":"doi","id":"10.1016\/j.braindev.2019.06.007","asserted-by":"object"}]},"ISSN":["0387-7604"],"issn-type":[{"value":"0387-7604","type":"print"}],"subject":[],"published":{"date-parts":[[2019,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10","name":"articletitle","label":"Article Title"},{"value":"Brain and Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.braindev.2019.03.009","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}