{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T17:39:32Z","timestamp":1790185172015,"version":"4.1.0"},"reference-count":34,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2018,4,1]],"date-time":"2018-04-01T00:00:00Z","timestamp":1522540800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,1,9]],"date-time":"2018-01-09T00:00:00Z","timestamp":1515456000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"Lineagen, Inc."},{"name":"University of Utah Graduate Program in Genetic Counseling"},{"name":"National Center for Advancing Translational Sciences of the National Institutes of Health","award":["UL1TR001067"],"award-info":[{"award-number":["UL1TR001067"]}]}],"content-domain":{"domain":["epilepsybehavior.com","clinicalkey.jp","clinicalkey.com","clinicalkey.es","clinicalkey.fr","clinicalkey.com.au","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Epilepsy & Behavior"],"published-print":{"date-parts":[[2018,4]]},"DOI":"10.1016\/j.yebeh.2017.12.008","type":"journal-article","created":{"date-parts":[[2018,3,20]],"date-time":"2018-03-20T10:10:38Z","timestamp":1521540638000},"page":"55-61","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":17,"special_numbering":"C","title":["A survey of antiepileptic drug responses identifies drugs with potential efficacy for seizure control in Wolf\u2013Hirschhorn syndrome"],"prefix":"10.1016","volume":"81","author":[{"given":"Karen S.","family":"Ho","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leah M.","family":"Markham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hope","family":"Twede","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda","family":"Lortz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lenora M.","family":"Olson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoming","family":"Sheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cindy","family":"Weng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"III","given":"E. Robert","family":"Wassman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tara","family":"Newcomb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. Robert","family":"Wassman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John C.","family":"Carey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agatino","family":"Battaglia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.yebeh.2017.12.008_bb0005","series-title":"GeneReviews","article-title":"Wolf-Hirschhorn syndrome","author":"Battaglia","year":"2017"},{"issue":"1","key":"10.1016\/j.yebeh.2017.12.008_bb0010","first-page":"S12","article-title":"What is more harmful, seizures or epileptic EEG abnormalities? Is there any clinical data?","volume":"16","author":"Holmes","year":"2014","journal-title":"Epileptic Disord"},{"key":"10.1016\/j.yebeh.2017.12.008_bb0015","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1111\/j.1469-8749.2008.03233.x","article-title":"Spectrum of epilepsy and electroencephalogram patterns in Wolf-Hirschhorn syndrome: experience with 87 patients","volume":"51","author":"Battaglia","year":"2009","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.yebeh.2017.12.008_bb0020","first-page":"392","article-title":"Overview of drugs used for epilepsy and seizures: etiology, diagnosis, and treatment","volume":"35","author":"Goldenberg","year":"2010","journal-title":"Pharm Ther"},{"key":"10.1016\/j.yebeh.2017.12.008_bb0025","doi-asserted-by":"crossref","first-page":"2084","DOI":"10.1007\/s11064-017-2312-y","article-title":"Genomics-guided precise anti-epileptic drug development","volume":"42","author":"Delanty","year":"2017","journal-title":"Neurochem Res"},{"key":"10.1016\/j.yebeh.2017.12.008_bb0030","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1007\/s11910-015-0587-4","article-title":"Genetic discoveries drive molecular analyses and targeted therapeutic options in the epilepsies","volume":"15","author":"Dhindsa","year":"2015","journal-title":"Curr Neurol Neurosci Rep"},{"key":"10.1016\/j.yebeh.2017.12.008_bb0035","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1007\/s11910-017-0758-6","article-title":"The new classification of seizures by the International League Against Epilepsy 2017","volume":"17","author":"Fisher","year":"2017","journal-title":"Curr Neurol Neurosci Rep"},{"key":"10.1016\/j.yebeh.2017.12.008_bb0040","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1111\/epi.12530","article-title":"A survey of seizures and current treatments in 15q duplication syndrome","volume":"55","author":"Conant","year":"2014","journal-title":"Epilepsia"},{"key":"10.1016\/j.yebeh.2017.12.008_bb0045","doi-asserted-by":"crossref","first-page":"4223","DOI":"10.1136\/adc.79.5.423","article-title":"Parental view of epilepsy in Angelman syndrome: a questionnaire study","volume":"79","author":"Ruggieri","year":"1998","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.yebeh.2017.12.008_bb0050","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.eplepsyres.2008.01.007","article-title":"The Early Childhood Epilepsy Severity Scale (E-Chess)","volume":"79","author":"Humphrey","year":"2008","journal-title":"Epilepsy Res"},{"key":"10.1016\/j.yebeh.2017.12.008_bb0055","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1093\/hmg\/6.2.317","article-title":"A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region","volume":"6","author":"Wright","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.yebeh.2017.12.008_bb0060","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1086\/367925","article-title":"Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2","volume":"72","author":"Zollino","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.yebeh.2017.12.008_bb0065","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1007\/s00381-015-2967-0","article-title":"Excellent response to levetiracetam in epilepsy with Wolf-Hirschhorn syndrome","volume":"32","author":"Karalok","year":"2016","journal-title":"Childs Nerv Syst"},{"key":"10.1016\/j.yebeh.2017.12.008_bb0070","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1111\/j.1528-1167.2006.00969.x","article-title":"Lamotrigine therapy of epilepsy with Angelman's syndrome","volume":"48","author":"Dion","year":"2007","journal-title":"Epilepsia"},{"key":"10.1016\/j.yebeh.2017.12.008_bb0075","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1016\/j.yebeh.2014.12.028","article-title":"The European patient with Dravet syndrome: results from a parent-reported survey on antiepileptic drug use in the European population with Dravet syndrome","volume":"44","author":"Aras","year":"2015","journal-title":"Epilepsy Behav"},{"key":"10.1016\/j.yebeh.2017.12.008_bb0080","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.pediatrneurol.2017.01.025","article-title":"Optimizing the diagnosis and management of Dravet syndrome: recommendations from a North American Consensus Panel","volume":"68","author":"Wirrell","year":"2017","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.yebeh.2017.12.008_bb0085","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/j.braindev.2015.06.008","article-title":"Efficacy of antiepileptic drugs for the treatment of Dravet syndrome with different genotypes","volume":"38","author":"Shi","year":"2016","journal-title":"Brain Dev"},{"issue":"Suppl. 9","key":"10.1016\/j.yebeh.2017.12.008_bb0090","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1111\/j.1528-1167.2008.01922.x","article-title":"Debate: does genetic information in humans help us treat patients? PRO\u2014genetic information in humans helps us treat patients. CON\u2014genetic information does not help at all","volume":"49","author":"Delgado-Escueta","year":"2008","journal-title":"Epilepsia"},{"key":"10.1016\/j.yebeh.2017.12.008_bb0095","doi-asserted-by":"crossref","first-page":"2408","DOI":"10.1212\/WNL.0000000000003400","article-title":"Long-term treatment of epilepsy with everolimus in tuberous sclerosis","volume":"87","author":"Krueger","year":"2016","journal-title":"Neurology"},{"key":"10.1016\/j.yebeh.2017.12.008_bb0100","doi-asserted-by":"crossref","first-page":"1239","DOI":"10.1111\/epi.13050","article-title":"Epilepsy in children with tuberous sclerosis complex: chance of remission and response to antiepileptic drugs","volume":"56","author":"Overwater","year":"2015","journal-title":"Epilepsia"},{"key":"10.1016\/j.yebeh.2017.12.008_bb0105","doi-asserted-by":"crossref","first-page":"2153","DOI":"10.1016\/S0140-6736(16)31419-2","article-title":"Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study","volume":"388","author":"French","year":"2016","journal-title":"Lancet"},{"key":"10.1016\/j.yebeh.2017.12.008_bb0110","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.yebeh.2016.10.006","article-title":"Effectiveness and tolerability of antiepileptic drugs in 104 girls with Rett syndrome","volume":"66","author":"Vignoli","year":"2017","journal-title":"Epilepsy Behav"},{"key":"10.1016\/j.yebeh.2017.12.008_bb0115","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1016\/j.yebeh.2016.04.030","article-title":"Seizure treatment in Angelman syndrome: a case series from the Angelman Syndrome Clinic at Massachusetts General Hospital","volume":"60","author":"Shaaya","year":"2016","journal-title":"Epilepsy Behav"},{"key":"10.1016\/j.yebeh.2017.12.008_bb0120","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1136\/jmedgenet-2015-103626","article-title":"Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome","volume":"53","author":"Ho","year":"2016","journal-title":"J Med Genet"},{"key":"10.1016\/j.yebeh.2017.12.008_bb0125","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1016\/j.ajhg.2016.02.007","article-title":"Pathogenic variants in PIGG cause intellectual disability with seizures and hypotonia","volume":"98","author":"Makrythanasis","year":"2016","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.yebeh.2017.12.008_bb0130","doi-asserted-by":"crossref","first-page":"1689","DOI":"10.1242\/dev.047464","article-title":"Biogenesis of GPI-anchored proteins is essential for surface expression of sodium channels in zebrafish Rohon-Beard neurons to respond to mechanosensory stimulation","volume":"137","author":"Nakano","year":"2010","journal-title":"Development"},{"key":"10.1016\/j.yebeh.2017.12.008_bb0135","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1002\/ajmg.a.37979","article-title":"A case for cannabidiol in Wolf-Hirschhorn syndrome seizure management","volume":"173","author":"Ho","year":"2017","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.yebeh.2017.12.008_bb0140","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/j.nbd.2014.12.028","article-title":"Rescuable folding defective NaV1.1 (SCN1A) mutants in epilepsy: properties, occurrence, and novel rescuing strategy with peptides targeted to the endoplasmic reticulum","volume":"75","author":"Bechi","year":"2015","journal-title":"Neurobiol Dis"},{"key":"10.1016\/j.yebeh.2017.12.008_bb0145","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1016\/j.braindev.2016.07.006","article-title":"Two mild cases of Dravet syndrome with truncating mutation of SCN1A","volume":"39","author":"Takaori","year":"2017","journal-title":"Brain Dev"},{"key":"10.1016\/j.yebeh.2017.12.008_bb0150","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1002\/ana.24178","article-title":"Copy number variation plays an important role in clinical epilepsy","volume":"75","author":"Olson","year":"2014","journal-title":"Ann Neurol"},{"key":"10.1016\/j.yebeh.2017.12.008_bb0155","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1212\/WNL.0b013e31820c309b","article-title":"Genotype-phenotype associations in SCN1A-related epilepsies","volume":"76","author":"Zuberi","year":"2011","journal-title":"Neurology"},{"key":"10.1016\/j.yebeh.2017.12.008_bb0160","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1007\/s40263-017-0441-0","article-title":"Sodium channel blockers in the treatment of epilepsy","volume":"31","author":"Brodie","year":"2017","journal-title":"CNS Drugs"},{"issue":"Suppl. 2","key":"10.1016\/j.yebeh.2017.12.008_bb0165","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1111\/j.1528-1167.2011.03007.x","article-title":"The pharmacologic treatment of Dravet syndrome","volume":"52","author":"Chiron","year":"2011","journal-title":"Epilepsia"},{"key":"10.1016\/j.yebeh.2017.12.008_bb0170","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1016\/j.seizure.2009.05.009","article-title":"Seizure frequency in children with epilepsy: factors influencing accuracy and parental awareness","volume":"18","author":"Akman","year":"2009","journal-title":"Seizure"}],"container-title":["Epilepsy & Behavior"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1525505017308685?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1525505017308685?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,8,23]],"date-time":"2018-08-23T00:20:00Z","timestamp":1534983600000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1525505017308685"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,4]]},"references-count":34,"alternative-id":["S1525505017308685"],"URL":"https:\/\/doi.org\/10.1016\/j.yebeh.2017.12.008","relation":{},"ISSN":["1525-5050"],"issn-type":[{"value":"1525-5050","type":"print"}],"subject":[],"published":{"date-parts":[[2018,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A survey of antiepileptic drug responses identifies drugs with potential efficacy for seizure control in Wolf\u2013Hirschhorn syndrome","name":"articletitle","label":"Article Title"},{"value":"Epilepsy & Behavior","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.yebeh.2017.12.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}