{"id":"https://openalex.org/W4389446293","doi":"https://doi.org/10.1212/wnl.94.15_supplement.4775","title":"An Online Survey of Caregivers of Patients with KCNQ2 Developmental & Epileptic Encephalopathy (KCNQ2-DEE) (4775)","display_name":"An Online Survey of Caregivers of Patients with KCNQ2 Developmental & Epileptic Encephalopathy (KCNQ2-DEE) (4775)","publication_year":2020,"publication_date":"2020-04-14","ids":{"openalex":"https://openalex.org/W4389446293","doi":"https://doi.org/10.1212/wnl.94.15_supplement.4775","mag":"3195881704"},"language":"en","primary_location":{"id":"doi:10.1212/wnl.94.15_supplement.4775","doi":"https://doi.org/10.1212/wnl.94.15_supplement.4775","is_oa":false,"landing_page_url":"https://doi.org/10.1212/wnl.94.15_supplement.4775","pdf_url":null,"source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5080677331","display_name":"Cynthia L. Harden","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210127345","display_name":"Xenon Pharmaceuticals (Canada)","ror":"https://ror.org/029t2gr02","country_code":"CA","type":"company","lineage":["https://openalex.org/I4210127345"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Cynthia Harden","raw_affiliation_strings":["Clinical Development, Xenon Pharmaceuticals, Inc"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Development, Xenon Pharmaceuticals, Inc","institution_ids":["https://openalex.org/I4210127345"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055671510","display_name":"Noam N. Butterfield","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210127345","display_name":"Xenon Pharmaceuticals (Canada)","ror":"https://ror.org/029t2gr02","country_code":"CA","type":"company","lineage":["https://openalex.org/I4210127345"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Noam Butterfield","raw_affiliation_strings":["Clinical Development, Xenon Pharmaceuticals, Inc"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Development, Xenon Pharmaceuticals, Inc","institution_ids":["https://openalex.org/I4210127345"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5114256280","display_name":"Celene Grayson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210127345","display_name":"Xenon Pharmaceuticals (Canada)","ror":"https://ror.org/029t2gr02","country_code":"CA","type":"company","lineage":["https://openalex.org/I4210127345"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Celene Grayson","raw_affiliation_strings":["Clinical Development, Xenon Pharmaceuticals, Inc"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Development, Xenon Pharmaceuticals, Inc","institution_ids":["https://openalex.org/I4210127345"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042205001","display_name":"Constanza Luzon","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210127345","display_name":"Xenon Pharmaceuticals (Canada)","ror":"https://ror.org/029t2gr02","country_code":"CA","type":"company","lineage":["https://openalex.org/I4210127345"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Constanza Luzon","raw_affiliation_strings":["Clinical Development, Xenon Pharmaceuticals, Inc"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Development, Xenon Pharmaceuticals, Inc","institution_ids":["https://openalex.org/I4210127345"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109917275","display_name":"Simon Neil Pimstone","orcid":"https://orcid.org/0009-0006-0319-7410","observed_orcids":["https://orcid.org/0009-0006-0319-7410"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Simon Pimstone","raw_affiliation_strings":["Xenon Pharmaceuticals, Inc"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Xenon Pharmaceuticals, Inc","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078169327","display_name":"Ernesto Aycardi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210127345","display_name":"Xenon Pharmaceuticals (Canada)","ror":"https://ror.org/029t2gr02","country_code":"CA","type":"company","lineage":["https://openalex.org/I4210127345"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Ernesto Aycardi","raw_affiliation_strings":["Clinical Development, Xenon Pharmaceuticals, Inc"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Development, Xenon Pharmaceuticals, Inc","institution_ids":["https://openalex.org/I4210127345"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5010695820","display_name":"J Gordon Millichap","orcid":"https://orcid.org/0000-0002-0798-0131","observed_orcids":["https://orcid.org/0000-0002-0798-0131"]},"institutions":[{"id":"https://openalex.org/I1294278766","display_name":"Lurie Children's Hospital","ror":"https://ror.org/03a6zw892","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1294278766"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"John Millichap","raw_affiliation_strings":["Ann & Robert H. Lurie Childrens Hospital of Chicago"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ann & Robert H. Lurie Childrens Hospital of Chicago","institution_ids":["https://openalex.org/I1294278766"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.38291273,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"94","issue":"15_supplement","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10094","display_name":"Epilepsy research and treatment","score":0.9970999956130981,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10094","display_name":"Epilepsy research and treatment","score":0.9970999956130981,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10493","display_name":"Ion channel regulation and function","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12267","display_name":"Diet and metabolism studies","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/kcnq2","display_name":"KCNQ2","score":0.8679999709129333},{"id":"https://openalex.org/keywords/caregivers","display_name":"caregivers","score":0.6010000109672546},{"id":"https://openalex.org/keywords/clinical-characteristics","display_name":"clinical features","score":0.8330000042915344},{"id":"https://openalex.org/keywords/epilepsy","display_name":"epilepsy","score":0.781000018119812},{"id":"https://openalex.org/keywords/developmental-encephalopathy","display_name":"developmental encephalopathy","score":0.7450000047683716},{"id":"https://openalex.org/keywords/family-caregiving","display_name":"family caregiving","score":0.375}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5722029805183411},{"id":"https://openalex.org/C2778621155","wikidata":"https://www.wikidata.org/wiki/Q576349","display_name":"Encephalopathy","level":2,"score":0.49775341153144836},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.4897013008594513},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.40561336278915405},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.32747527956962585},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.32630836963653564}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1212/wnl.94.15_supplement.4775","doi":"https://doi.org/10.1212/wnl.94.15_supplement.4775","is_oa":false,"landing_page_url":"https://doi.org/10.1212/wnl.94.15_supplement.4775","pdf_url":null,"source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"},{"id":"mag:3195881704","doi":null,"is_oa":false,"landing_page_url":"https://n.neurology.org/content/94/15_Supplement/4775","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Neurology","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"score":1.0,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W3130236979","https://openalex.org/W4361209201","https://openalex.org/W3212027977","https://openalex.org/W4413996468","https://openalex.org/W3119707510","https://openalex.org/W4416338819","https://openalex.org/W7123337237","https://openalex.org/W4399700341","https://openalex.org/W4389445336","https://openalex.org/W3084355190"],"abstract_inverted_index":{"Objective:":[0],"We":[1],"conducted":[2],"an":[3,21],"online":[4,76],"survey":[5,77,111],"to":[6,80,201,293],"understand":[7],"the":[8,28,32,61,110,115,139,151,158,207,233,391],"clinical":[9],"presentation":[10],"of":[11,56,60,64,70,86,114,123,143,147,155,161,167,183,190,206,222,393,395],"KCNQ2":[12,29],"developmental":[13,45],"and":[14,43,95,101,117,149,179,217,240,276],"epileptic":[15],"encephalopathy":[16],"(KCNQ2-DEE).":[17],"Background:":[18],"KCNQ2-DEE":[19,36,131,249],"is":[20,37,259],"ultra-rare":[22],"disorder":[23],"caused":[24],"by":[25,39,232,281],"variants":[26,126],"in":[27,103,204,229,244,273,428],"gene,":[30],"encoding":[31],"Kv7.2":[33],"potassium":[34],"channel.":[35],"characterized":[38],"focal":[40],"tonic":[41],"seizures":[42,51,171,275],"severe":[44],"delay,":[46],"which":[47],"persists":[48],"even":[49],"when":[50],"are":[52,271],"controlled.":[53],"The":[54,181,192,209],"lack":[55],"a":[57,251,260,305,327,349,371,409,441],"clear":[58],"understanding":[59],"natural":[62],"history":[63],"this":[65,68],"disease":[66,256],"makes":[67],"work":[69],"critical":[71],"importance.":[72],"Design/Methods:":[73],"A":[74],"28-question":[75],"was":[78,136],"developed":[79],"obtain":[81],"de-identified":[82],"data":[83],"from":[84,121,197],"caregivers":[85,108,223],"children":[87],"with":[88,130,313,335,357,379,417,449],"KCNQ2-DEE.":[89],"It":[90],"investigated":[91],"demographics,":[92],"seizure":[93,104,116,164,194,202,230,246,253],"onset":[94,135],"frequency,":[96],"anti-seizure":[97],"medication":[98],"(ASM)":[99],"use,":[100],"confidence":[102],"identification.":[105],"Results:":[106],"Seventy-one":[107],"completed":[109],"through":[112],"all":[113],"treatment":[118,268],"questions.":[119],"Answers":[120],"cases":[122],"reported":[124,137,224],"gain-of-function":[125],"or":[127,310,332,354,376,414,446],"phenotypes":[128],"inconsistent":[129],"were":[132,177,185,215,241],"excluded.":[133],"Seizure":[134],"within":[138,150],"first":[140,152],"2":[141],"days":[142,154],"life":[144,156],"for":[145,157,301,323,345,367,388,405,437],"90%":[146],"patients,":[148],"5":[153],"remaining":[159],"10%":[160],"patients.":[162,208],"At":[163],"onset,":[165],">50%":[166],"patients":[168],"experienced":[169],">10":[170],"per":[172,199],"day;":[173],"most":[174,210,277],"common":[175],"ASMs":[176,214],"phenobarbital":[178],"levetiracetam.":[180],"majority":[182],"respondents":[184],"at":[186,255],"least":[187],"4":[188],"years":[189],"age.":[191],"current":[193],"frequency":[195],"range":[196],"several":[198],"day":[200],"freedom":[203],"55%":[205],"frequent":[211],"currently":[212],"used":[213],"carbamazepine":[216],"oxcarbazepine.":[218],"Around":[219],"three":[220],"quarters":[221],"they":[225],"had":[226],"received":[227,298,320,342,364,386,402,434],"training":[228],"recognition":[231],"neurology":[234],"team":[235],"based":[236],"on":[237,304,326,348,370,390,408,440],"video":[238,285],"electroencephalography,":[239],"highly":[242],"confident":[243,272],"identifying":[245],"occurrence.":[247],"Conclusions:":[248],"imposes":[250],"significant":[252,261],"burden":[254],"onset.":[257],"There":[258],"unmet":[262],"medical":[263,282],"need":[264],"that":[265],"requires":[266],"better":[267],"options.":[269],"Parents/caregivers":[270],"recognizing":[274],"have":[278],"been":[279],"trained":[280],"personnel":[283],"using":[284],"electroencephalography-documented":[286],"seizures.":[287],"Disclosure:":[288],"Dr.":[289,295,317,339,361,383,399,421],"Harden":[290],"has":[291,297,319,341,363,385,401,433],"nothing":[292],"disclose.":[294],"Butterfield":[296],"personal":[299,321,343,365,403,435],"compensation":[300,322,344,366,387,404,436],"consulting,":[302,324,346,368,406,438],"serving":[303,325,347,369,389,407,439],"scientific":[306,328,350,372,410,442],"advisory":[307,329,351,373,411,443],"board,":[308,330,352,374,412,444],"speaking,":[309,331,353,375,413,445],"other":[311,333,355,377,415,447],"activities":[312,334,356,378,416,448],"Xenon":[314,336,358,380,396,418,429,450],"Pharmaceuticals,":[315,359,381,397,451],"Inc.":[316,338,360,382,398,420,452],"Grayson":[318],"Pharmaceuticals":[337,419,430],"Luzon":[340],"Pimstone":[362,384],"Board":[392],"Directors":[394],"Aycardi":[400,422],"holds":[423],"stock":[424,426],"and/or":[425],"options":[427],"Inc.Dr.":[431],"Millichap":[432]},"counts_by_year":[],"updated_date":"2026-10-27T15:51:10.671819","created_date":"2023-12-08T00:00:00"}