{"id":"https://openalex.org/W4414358564","doi":"https://doi.org/10.1007/s40120-025-00826-7","title":"The Difficult Journey of a Child with Dravet Syndrome: Perspectives from a Parent and the Neuropaediatrician","display_name":"The Difficult Journey of a Child with Dravet Syndrome: Perspectives from a Parent and the Neuropaediatrician","publication_year":2025,"publication_date":"2025-09-19","ids":{"openalex":"https://openalex.org/W4414358564","doi":"https://doi.org/10.1007/s40120-025-00826-7","pmid":"https://pubmed.ncbi.nlm.nih.gov/40971140"},"language":"en","primary_location":{"id":"doi:10.1007/s40120-025-00826-7","doi":"https://doi.org/10.1007/s40120-025-00826-7","is_oa":true,"landing_page_url":"https://doi.org/10.1007/s40120-025-00826-7","pdf_url":null,"source":{"id":"https://openalex.org/S2736361170","display_name":"Neurology and Therapy","issn_l":"2193-6536","issn":["2193-6536","2193-8253"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-2","ki-jl-1","norway-1"],"host_organization":"https://openalex.org/P4310320330","host_organization_name":"Adis, Springer Healthcare","host_organization_lineage":["https://openalex.org/P4310320330","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Adis, Springer Healthcare","Springer Nature"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology and Therapy","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1007/s40120-025-00826-7","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5119679077","display_name":"Romain Reboux","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Romain Reboux","raw_affiliation_strings":["Patient/Guardian Author, Rennes, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Patient/Guardian Author, Rennes, France","institution_ids":[]}]},{"author_position":"last","author":{"id":null,"display_name":"Silvia Napuri","orcid":"https://orcid.org/0000-0003-0055-9210","observed_orcids":["https://orcid.org/0000-0003-0055-9210"]},"institutions":[{"id":"https://openalex.org/I4210155724","display_name":"Centre Hospitalier Universitaire de Rennes","ror":"https://ror.org/05qec5a53","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210155724"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"Silvia Napuri","raw_affiliation_strings":["Department of Emergency and Specialist Paediatrics, Rennes University Hospital, Rennes, France. silviaadriana.napuri.peirano@chu-rennes.fr","Service de P\u00e9diatrie d'Urgences et de Sp\u00e9cialit\u00e9s, Centre Hospitalier Universitaire de Rennes, H\u00f4pital Sud, 16, Boulevard de Bulgarie, 35203, Rennes Cedex 2, France. silviaadriana.napuri.peirano@chu-rennes.fr","Department of Emergency and Specialist Paediatrics, Rennes University Hospital, Rennes, France"],"raw_orcid":"https://orcid.org/0000-0003-0055-9210","affiliations":[{"raw_affiliation_string":"Department of Emergency and Specialist Paediatrics, Rennes University Hospital, Rennes, France. silviaadriana.napuri.peirano@chu-rennes.fr","institution_ids":["https://openalex.org/I4210155724"]},{"raw_affiliation_string":"Service de P\u00e9diatrie d'Urgences et de Sp\u00e9cialit\u00e9s, Centre Hospitalier Universitaire de Rennes, H\u00f4pital Sud, 16, Boulevard de Bulgarie, 35203, Rennes Cedex 2, France. silviaadriana.napuri.peirano@chu-rennes.fr","institution_ids":["https://openalex.org/I4210155724"]},{"raw_affiliation_string":"Department of Emergency and Specialist Paediatrics, Rennes University Hospital, Rennes, France","institution_ids":["https://openalex.org/I4210155724"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I4210155724"],"apc_list":{"value":7400,"currency":"USD","value_usd":7400},"apc_paid":{"value":7400,"currency":"USD","value_usd":7400},"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.24298098,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"14","issue":"6","first_page":"2261","last_page":"2272"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10094","display_name":"Epilepsy research and treatment","score":0.9984999895095825,"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":0.9984999895095825,"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/T12267","display_name":"Diet and metabolism studies","score":0.0003000000142492354,"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"}},{"id":"https://openalex.org/T12229","display_name":"Pharmacological Effects and Toxicity Studies","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"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/dravet-syndrome","display_name":"Dravet syndrome","score":1.0},{"id":"https://openalex.org/keywords/pediatric-epilepsy","display_name":"pediatric epilepsy","score":0.5860000252723694},{"id":"https://openalex.org/keywords/status-epilepticus","display_name":"status epilepticus","score":0.9570000171661377},{"id":"https://openalex.org/keywords/valproic-acid","display_name":"valproic acid","score":0.722000002861023},{"id":"https://openalex.org/keywords/clobazam","display_name":"clobazam","score":0.9589999914169312},{"id":"https://openalex.org/keywords/stiripentol","display_name":"stiripentol","score":0.9990000128746033},{"id":"https://openalex.org/keywords/cannabidiol","display_name":"cannabidiol","score":0.765999972820282},{"id":"https://openalex.org/keywords/fenfluramine","display_name":"fenfluramine","score":0.8659999966621399},{"id":"https://openalex.org/keywords/ketogenic-diet","display_name":"ketogenic diet","score":0.9750000238418579},{"id":"https://openalex.org/keywords/topiramate","display_name":"topiramate","score":0.890999972820282},{"id":"https://openalex.org/keywords/antiepileptic-drug-combination-therapy","display_name":"antiepileptic drug combination therapy","score":0.6470000147819519},{"id":"https://openalex.org/keywords/parental-perceptions","display_name":"parental attitudes","score":0.4300000071525574},{"id":"https://openalex.org/keywords/diagnosis-and-management","display_name":"diagnosis and management","score":0.6320000290870667},{"id":"https://openalex.org/keywords/brain-damage","display_name":"brain damage","score":0.5699999928474426},{"id":"https://openalex.org/keywords/rehabilitation","display_name":"rehabilitation","score":0.6230000257492065}],"concepts":[{"id":"https://openalex.org/C2777907850","wikidata":"https://www.wikidata.org/wiki/Q412164","display_name":"Clobazam","level":3,"score":0.8633999824523926},{"id":"https://openalex.org/C2780623815","wikidata":"https://www.wikidata.org/wiki/Q1255956","display_name":"Dravet syndrome","level":3,"score":0.8392000198364258},{"id":"https://openalex.org/C2777683783","wikidata":"https://www.wikidata.org/wiki/Q221174","display_name":"Topiramate","level":3,"score":0.7649000287055969},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7620999813079834},{"id":"https://openalex.org/C2778587478","wikidata":"https://www.wikidata.org/wiki/Q1070684","display_name":"Ketogenic diet","level":3,"score":0.7128999829292297},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.5756000280380249},{"id":"https://openalex.org/C16568411","wikidata":"https://www.wikidata.org/wiki/Q83042","display_name":"Neurology","level":2,"score":0.5365999937057495},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.516700029373169},{"id":"https://openalex.org/C2777341932","wikidata":"https://www.wikidata.org/wiki/Q980709","display_name":"Status epilepticus","level":3,"score":0.4499000012874603},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.4490000009536743},{"id":"https://openalex.org/C2777332695","wikidata":"https://www.wikidata.org/wiki/Q417227","display_name":"Levetiracetam","level":3,"score":0.3946000039577484},{"id":"https://openalex.org/C177713679","wikidata":"https://www.wikidata.org/wiki/Q679690","display_name":"Intensive care medicine","level":1,"score":0.36149999499320984},{"id":"https://openalex.org/C2909985455","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Seizure Disorders","level":3,"score":0.36070001125335693},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.3158999979496002},{"id":"https://openalex.org/C2992125907","wikidata":"https://www.wikidata.org/wiki/Q1741837","display_name":"Child health","level":2,"score":0.31520000100135803},{"id":"https://openalex.org/C2779701055","wikidata":"https://www.wikidata.org/wiki/Q929833","display_name":"Rare disease","level":3,"score":0.313400000333786},{"id":"https://openalex.org/C2779706987","wikidata":"https://www.wikidata.org/wiki/Q408265","display_name":"Lorazepam","level":2,"score":0.2919999957084656},{"id":"https://openalex.org/C89623803","wikidata":"https://www.wikidata.org/wiki/Q12184","display_name":"Pandemic","level":5,"score":0.2809000015258789},{"id":"https://openalex.org/C2779746230","wikidata":"https://www.wikidata.org/wiki/Q15752159","display_name":"Pediatric Neurology","level":2,"score":0.27570000290870667},{"id":"https://openalex.org/C2775858608","wikidata":"https://www.wikidata.org/wiki/Q576618","display_name":"Anticonvulsant","level":3,"score":0.26589998602867126},{"id":"https://openalex.org/C542102704","wikidata":"https://www.wikidata.org/wiki/Q183257","display_name":"Psychotherapist","level":1,"score":0.2612999975681305},{"id":"https://openalex.org/C2778734009","wikidata":"https://www.wikidata.org/wiki/Q55785625","display_name":"Epilepsy syndromes","level":3,"score":0.26019999384880066},{"id":"https://openalex.org/C2777288759","wikidata":"https://www.wikidata.org/wiki/Q4164182","display_name":"Dosing","level":2,"score":0.2563000023365021},{"id":"https://openalex.org/C2780874087","wikidata":"https://www.wikidata.org/wiki/Q7447057","display_name":"Seizure types","level":3,"score":0.2533000111579895},{"id":"https://openalex.org/C160735492","wikidata":"https://www.wikidata.org/wiki/Q31207","display_name":"Health care","level":2,"score":0.2506999969482422}],"mesh":[],"locations_count":4,"locations":[{"id":"doi:10.1007/s40120-025-00826-7","doi":"https://doi.org/10.1007/s40120-025-00826-7","is_oa":true,"landing_page_url":"https://doi.org/10.1007/s40120-025-00826-7","pdf_url":null,"source":{"id":"https://openalex.org/S2736361170","display_name":"Neurology and Therapy","issn_l":"2193-6536","issn":["2193-6536","2193-8253"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-2","ki-jl-1","norway-1"],"host_organization":"https://openalex.org/P4310320330","host_organization_name":"Adis, Springer Healthcare","host_organization_lineage":["https://openalex.org/P4310320330","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Adis, Springer Healthcare","Springer Nature"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology and Therapy","raw_type":"journal-article"},{"id":"pmid:40971140","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/40971140","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology and therapy","raw_type":"Editorial"},{"id":"pmh:oai:europepmc.org:11431797","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/12623555","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:doaj.org/article:00b648b85f244ac3884331939d22177b","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/00b648b85f244ac3884331939d22177b","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Neurology and Therapy, Vol 14, Iss 6, Pp 2261-2272 (2025)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1007/s40120-025-00826-7","doi":"https://doi.org/10.1007/s40120-025-00826-7","is_oa":true,"landing_page_url":"https://doi.org/10.1007/s40120-025-00826-7","pdf_url":null,"source":{"id":"https://openalex.org/S2736361170","display_name":"Neurology and Therapy","issn_l":"2193-6536","issn":["2193-6536","2193-8253"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-2","ki-jl-1","norway-1"],"host_organization":"https://openalex.org/P4310320330","host_organization_name":"Adis, Springer Healthcare","host_organization_lineage":["https://openalex.org/P4310320330","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Adis, Springer Healthcare","Springer Nature"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology and Therapy","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":1.0}],"sustainable_development_goals_aurora":[],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F8117328521","display_name":"Biocodex France","ror":null}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":20,"referenced_works":["https://openalex.org/W1937092195","https://openalex.org/W1952904649","https://openalex.org/W1996149443","https://openalex.org/W2170194739","https://openalex.org/W2544534185","https://openalex.org/W2763605737","https://openalex.org/W2766832340","https://openalex.org/W2791498259","https://openalex.org/W2904308873","https://openalex.org/W2998796218","https://openalex.org/W3020919798","https://openalex.org/W3191979370","https://openalex.org/W4200365242","https://openalex.org/W4225248989","https://openalex.org/W4283795442","https://openalex.org/W4319317901","https://openalex.org/W4386028563","https://openalex.org/W4403103744","https://openalex.org/W4405062184","https://openalex.org/W4407065678"],"related_works":[],"abstract_inverted_index":{"Dravet":[0],"syndrome":[1],"(DS)":[2],"is":[3,191,238,242,279],"a":[4,36,39,59,98,186,251],"rare":[5],"and":[6,27,44,57,64,79,84,137,141,162,190,197,212,227,230,263,299],"severe":[7],"form":[8],"of":[9,21,35,38,61,101,120,128,155,214,219,271,284,293],"epilepsy,":[10],"characterised":[11],"by":[12,105,244],"recurrent":[13],"seizures":[14,49,63,174],"that":[15,152],"begin":[16],"during":[17],"the":[18,33,45,126,150,153,159,163,170,179,200,205,210,217,220,225,282,290],"first":[19],"year":[20],"life,":[22,189],"leading":[23],"to":[24,111,117,184,199,209,280],"motor,":[25],"cognitive":[26],"behavioural":[28],"impairments.":[29],"This":[30],"article":[31],"provides":[32],"perspectives":[34],"parent":[37],"child":[40],"with":[41,89,133,158],"DS":[42],"('Ethan')":[43],"treating":[46],"neuropaediatrician.":[47],"Ethan's":[48,145,147,173,202],"began":[50],"when":[51],"he":[52],"was":[53,94,139],"9":[54],"months":[55],"old,":[56,97],"were":[58,69],"mixture":[60],"focal":[62],"status":[65,102,287],"epilepticus.":[66],"Numerous":[67],"treatments":[68],"tried,":[70],"including":[71,216],"standard":[72],"anti-seizure":[73],"medications":[74,82],"(such":[75],"as":[76,254],"levetiracetam,":[77],"clobazam":[78],"fenfluramine),":[80],"other":[81],"(cannabidiol)":[83],"nonpharmacological":[85],"approaches":[86],"(ketogenic":[87],"diet),":[88],"little":[90],"success.":[91],"When":[92],"Ethan":[93,116,196],"3":[95],"years":[96],"prolonged":[99],"episode":[100],"epilepticus":[103],"precipitated":[104],"coronavirus":[106],"disease":[107],"2019":[108],"(COVID-19)":[109],"led":[110],"brain":[112],"damage.":[113],"Rehabilitation":[114],"allowed":[115],"regain":[118],"some":[119],"his":[121],"previous":[122],"functioning":[123],"and,":[124],"at":[125],"age":[127],"38":[129],"months,":[130],"combination":[131,247],"therapy":[132],"clobazam,":[134],"sodium":[135,239,245],"valproate":[136],"stiripentol":[138],"begun":[140],"has":[142,181],"successfully":[143],"controlled":[144],"seizures.":[146],"father":[148],"describes":[149],"stress":[151],"diagnosis":[154,211,226],"DS,":[156,215],"interactions":[157],"healthcare":[160],"system,":[161],"search":[164],"for":[165],"effective":[166],"treatment":[167,232,237,273],"imposed":[168],"on":[169,194,297],"family.":[171],"Since":[172],"have":[175],"been":[176,182],"better":[177],"controlled,":[178],"family":[180],"able":[183],"lead":[185],"more":[187],"normal":[188],"now":[192],"focused":[193],"supporting":[195],"looking":[198],"future.":[201],"neuropaediatrician":[203],"outlines":[204],"approach":[206],"she":[207],"takes":[208],"management":[213],"importance":[218],"clinician-parent":[221],"relationship":[222],"in":[223],"imparting":[224],"making":[228],"initial":[229],"ongoing":[231],"decisions.":[233],"The":[234,269],"preferred":[235],"first-line":[236],"valproate,":[240],"which":[241],"followed":[243],"valproate-clobazam-stiripentol":[246],"therapy,":[248],"topiramate":[249],"or":[250],"ketogenic":[252],"diet":[253],"second-line":[255],"options.":[256],"In":[257],"children":[258],">":[259],"2":[260],"years,":[261],"cannabidiol":[262],"fenfluramine":[264],"can":[265],"also":[266],"be":[267,277],"considered.":[268],"aim":[270],"maintenance":[272],"(which":[274],"will":[275],"invariably":[276],"polytherapy)":[278],"reduce":[281],"number":[283],"seizures,":[285],"particularly":[286],"epilepticus,":[288],"given":[289],"significant":[291],"impact":[292],"this":[294],"seizure":[295],"type":[296],"patients":[298],"caregivers.":[300]},"counts_by_year":[],"updated_date":"2026-10-01T08:54:57.152042","created_date":"2025-10-10T00:00:00"}
