{"id":"https://openalex.org/W4210246549","doi":"https://doi.org/10.1177/2329048x221075447","title":"Use of Dalfampridine in a Young Child with Episodic Ataxia Type 2","display_name":"Use of Dalfampridine in a Young Child with Episodic Ataxia Type 2","publication_year":2022,"publication_date":"2022-01-01","ids":{"openalex":"https://openalex.org/W4210246549","doi":"https://doi.org/10.1177/2329048x221075447","pmid":"https://pubmed.ncbi.nlm.nih.gov/35127965","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/8811424"},"language":"en","primary_location":{"id":"doi:10.1177/2329048x221075447","doi":"https://doi.org/10.1177/2329048x221075447","is_oa":true,"landing_page_url":"https://doi.org/10.1177/2329048x221075447","pdf_url":null,"source":{"id":"https://openalex.org/S4210211031","display_name":"Child Neurology Open","issn_l":"2329-048X","issn":["2329-048X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320017","host_organization_name":"SAGE Publishing","host_organization_lineage":["https://openalex.org/P4310320017"],"host_organization_lineage_names":["SAGE Publishing"],"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":"Child Neurology Open","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://doi.org/10.1177/2329048x221075447","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5063802586","display_name":"Emily Malamud","orcid":"https://orcid.org/0000-0002-2694-9244","observed_orcids":["https://orcid.org/0000-0002-2694-9244"]},"institutions":[{"id":"https://openalex.org/I4405269449","display_name":"Wake Forest University Health Sciences","ror":"https://ror.org/046r1r105","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4405269449","https://openalex.org/I47251452"]},{"id":"https://openalex.org/I47251452","display_name":"Wake Forest University","ror":"https://ror.org/0207ad724","country_code":"US","type":"education","lineage":["https://openalex.org/I47251452"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Emily Malamud","raw_affiliation_strings":["Wake Forest School of Medicine, Winston-Salem, NC"],"raw_orcid":"https://orcid.org/0000-0002-2694-9244","affiliations":[{"raw_affiliation_string":"Wake Forest School of Medicine, Winston-Salem, NC","institution_ids":["https://openalex.org/I4405269449","https://openalex.org/I47251452"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5050229912","display_name":"Scott Otallah","orcid":"https://orcid.org/0000-0003-0316-6121","observed_orcids":["https://orcid.org/0000-0003-0316-6121"]},"institutions":[{"id":"https://openalex.org/I1282516798","display_name":"Atrium Health Wake Forest Baptist","ror":"https://ror.org/04v8djg66","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1282516798","https://openalex.org/I47251452"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Scott I. Otallah","raw_affiliation_strings":["Division of Pediatric Neurology, Department of Neurology, Atrium Health Wake Forest Baptist, Medical Center Boulevard, JT9, Winston-Salem, NC,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatric Neurology, Department of Neurology, Atrium Health Wake Forest Baptist, Medical Center Boulevard, JT9, Winston-Salem, NC,","institution_ids":["https://openalex.org/I1282516798"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5063802586"],"corresponding_institution_ids":["https://openalex.org/I4405269449","https://openalex.org/I47251452"],"apc_list":{"value":1500,"currency":"USD","value_usd":1500},"apc_paid":{"value":1500,"currency":"USD","value_usd":1500},"fwci":0.5546,"has_fulltext":true,"cited_by_count":4,"citation_normalized_percentile":{"value":0.60358976,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"9","issue":null,"first_page":"2329048X221075447","last_page":"2329048X221075447"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10498","display_name":"Migraine and Headache Studies","score":0.9032999873161316,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"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/T10498","display_name":"Migraine and Headache Studies","score":0.9032999873161316,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"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/T10094","display_name":"Epilepsy research and treatment","score":0.03819999843835831,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"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/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.01730000041425228,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/episodic-ataxia-type-2","display_name":"episodic ataxia type 2","score":0.9860000014305115},{"id":"https://openalex.org/keywords/dalfampridine","display_name":"dalfampridine","score":0.9990000128746033},{"id":"https://openalex.org/keywords/pediatric-treatment","display_name":"pediatric treatment","score":0.6700000166893005},{"id":"https://openalex.org/keywords/acetazolamide","display_name":"acetazolamide","score":0.7379999756813049},{"id":"https://openalex.org/keywords/pediatric-dosing","display_name":"pediatric dosing","score":0.6110000014305115},{"id":"https://openalex.org/keywords/calcium-channelopathy","display_name":"calcium channelopathy","score":0.42899999022483826}],"concepts":[{"id":"https://openalex.org/C2777405951","wikidata":"https://www.wikidata.org/wiki/Q413690","display_name":"Acetazolamide","level":2,"score":0.8973773717880249},{"id":"https://openalex.org/C2777288759","wikidata":"https://www.wikidata.org/wiki/Q4164182","display_name":"Dosing","level":2,"score":0.7201234102249146},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6489496827125549},{"id":"https://openalex.org/C2778047097","wikidata":"https://www.wikidata.org/wiki/Q3031","display_name":"Girl","level":2,"score":0.6329452991485596},{"id":"https://openalex.org/C2780906641","wikidata":"https://www.wikidata.org/wiki/Q213373","display_name":"Ataxia","level":2,"score":0.5858718752861023},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.5703462958335876},{"id":"https://openalex.org/C3017976582","wikidata":"https://www.wikidata.org/wiki/Q179661","display_name":"First line treatment","level":3,"score":0.45375844836235046},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3157188892364502},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.23007622361183167},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.19745850563049316},{"id":"https://openalex.org/C2776694085","wikidata":"https://www.wikidata.org/wiki/Q974135","display_name":"Chemotherapy","level":2,"score":0.1087188720703125},{"id":"https://openalex.org/C138496976","wikidata":"https://www.wikidata.org/wiki/Q175002","display_name":"Developmental psychology","level":1,"score":0.09871944785118103}],"mesh":[],"locations_count":4,"locations":[{"id":"doi:10.1177/2329048x221075447","doi":"https://doi.org/10.1177/2329048x221075447","is_oa":true,"landing_page_url":"https://doi.org/10.1177/2329048x221075447","pdf_url":null,"source":{"id":"https://openalex.org/S4210211031","display_name":"Child Neurology Open","issn_l":"2329-048X","issn":["2329-048X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320017","host_organization_name":"SAGE Publishing","host_organization_lineage":["https://openalex.org/P4310320017"],"host_organization_lineage_names":["SAGE Publishing"],"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":"Child Neurology Open","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:8811424","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC8811424/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC8811424/pdf/","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Child Neurol Open","raw_type":"Text"},{"id":"pmid:35127965","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/35127965","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":"Child neurology open","raw_type":"Case Reports"},{"id":"pmh:oai:doaj.org/article:e64b771816d64186b657c1b74f191591","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/e64b771816d64186b657c1b74f191591","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":"Child Neurology Open, Vol 9 (2022)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1177/2329048x221075447","doi":"https://doi.org/10.1177/2329048x221075447","is_oa":true,"landing_page_url":"https://doi.org/10.1177/2329048x221075447","pdf_url":null,"source":{"id":"https://openalex.org/S4210211031","display_name":"Child Neurology Open","issn_l":"2329-048X","issn":["2329-048X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320017","host_organization_name":"SAGE Publishing","host_organization_lineage":["https://openalex.org/P4310320017"],"host_organization_lineage_names":["SAGE Publishing"],"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":"Child Neurology Open","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":1.0}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4210246549.pdf","grobid_xml":"https://content.openalex.org/works/W4210246549.grobid-xml"},"referenced_works_count":14,"referenced_works":["https://openalex.org/W1900218850","https://openalex.org/W1977497371","https://openalex.org/W2002726417","https://openalex.org/W2025197615","https://openalex.org/W2028388017","https://openalex.org/W2034395914","https://openalex.org/W2053978205","https://openalex.org/W2069602104","https://openalex.org/W2131876585","https://openalex.org/W2137424771","https://openalex.org/W2138768371","https://openalex.org/W2144889654","https://openalex.org/W2170446546","https://openalex.org/W2567369985"],"related_works":["https://openalex.org/W1859265372","https://openalex.org/W3158034604","https://openalex.org/W2921989525","https://openalex.org/W2105896214","https://openalex.org/W4389446711","https://openalex.org/W4281950836","https://openalex.org/W2288702972","https://openalex.org/W2067792961","https://openalex.org/W4376133429","https://openalex.org/W2081429591"],"abstract_inverted_index":{"Episodic":[0],"ataxia":[1],"type":[2],"2":[3,39],"(EA2)":[4],"is":[5,21,27],"a":[6,112,136],"rare":[7],"autosomal":[8],"dominant":[9],"disorder":[10],"associated":[11],"with":[12,37,109],"mutations":[13],"of":[14,51,70,83,138],"the":[15,47],"CACNA1A":[16,114],"gene.":[17],"1":[18],"Because":[19],"there":[20],"no":[22],"curative":[23],"therapy":[24],"available,":[25],"EA2":[26,110],"typically":[28,35],"managed":[29],"symptomatically.":[30],"First":[31],"line":[32],"treatment":[33],"has":[34,41,72,91],"been":[36,43,75,120],"acetazolamide.":[38,124],"Dalfampridine":[40],"also":[42],"noted":[44],"to":[45,93],"decrease":[46],"frequency":[48],"and":[49,68,90,100,111,131],"duration":[50],"ataxic":[52],"attacks":[53],"in":[54,57,77,86],"patients":[55,95],"ranging":[56],"age":[58],"from":[59],"adolescence":[60],"through":[61],"adulthood.":[62],"3":[63],",":[64],"4":[65],"The":[66,81],"efficacy":[67],"dosing":[69],"dalfampridine":[71,130],"not":[73],"yet":[74],"studied":[76],"younger":[78,87],"pediatric":[79],"populations.":[80],"lack":[82],"published":[84],"experience":[85],"children":[88],"can":[89],"led":[92],"these":[94],"going":[96],"without":[97],"potentially":[98],"safe":[99],"effective":[101],"treatment.":[102],"Thus,":[103],"we":[104],"describe":[105],"an":[106],"8-year-old":[107],"girl":[108],"confirmed":[113],"gene":[115],"mutation":[116],"whose":[117],"symptoms":[118],"had":[119],"previously":[121],"unrelieved":[122],"by":[123],"She":[125],"was":[126],"subsequently":[127],"trialed":[128],"on":[129],"experienced":[132],"symptomatic":[133],"relief":[134],"at":[135],"dose":[137],"0.3":[139],"mg/kg.":[140]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1}],"updated_date":"2026-11-11T12:16:26.678958","created_date":"2022-02-08T00:00:00"}