{"id":"https://openalex.org/W7203973926","doi":"https://doi.org/10.1002/mdc3.70794","title":"Reply: \u201cLetter to the Editor on \u2018Expanding the Phenotypic Spectrum of SCN2A : Generalized Dystonia without Epilepsy or Encephalopathy\u2019\u201d","display_name":"Reply: \u201cLetter to the Editor on \u2018Expanding the Phenotypic Spectrum of SCN2A : Generalized Dystonia without Epilepsy or Encephalopathy\u2019\u201d","publication_year":2026,"publication_date":"2026-08-22","ids":{"openalex":"https://openalex.org/W7203973926","doi":"https://doi.org/10.1002/mdc3.70794","pmid":"https://pubmed.ncbi.nlm.nih.gov/42631556","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/13499358"},"language":"en","primary_location":{"id":"doi:10.1002/mdc3.70794","doi":"https://doi.org/10.1002/mdc3.70794","is_oa":false,"landing_page_url":"https://doi.org/10.1002/mdc3.70794","pdf_url":null,"source":{"id":"https://openalex.org/S2764712647","display_name":"Movement Disorders Clinical Practice","issn_l":"2330-1619","issn":["2330-1619"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-20","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Movement Disorders Clinical Practice","raw_type":"journal-article"},"volume":null,"type":"letter","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13499358/","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5061895083","display_name":"Juan Manuel Altamirano","orcid":"https://orcid.org/0000-0002-7474-6820","observed_orcids":["https://orcid.org/0000-0002-7474-6820"]},"institutions":[{"id":"https://openalex.org/I4210098197","display_name":"Hospital Angeles Clinica Londres","ror":"https://ror.org/00f20ws83","country_code":"MX","type":"healthcare","lineage":["https://openalex.org/I4210098197"]}],"countries":["MX"],"is_corresponding":true,"raw_author_name":"Juan Manuel Altamirano","raw_affiliation_strings":["Neurosurgery Department Hospital Angeles Cl\u00ednica Londres  Mexico City Mexico"],"raw_orcid":"https://orcid.org/0000-0002-7474-6820","affiliations":[{"raw_affiliation_string":"Neurosurgery Department Hospital Angeles Cl\u00ednica Londres  Mexico City Mexico","institution_ids":["https://openalex.org/I4210098197"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5002038839","display_name":"Karla Salinas-Barboza","orcid":"https://orcid.org/0000-0003-0366-8172","observed_orcids":["https://orcid.org/0000-0003-0366-8172"]},"institutions":[{"id":"https://openalex.org/I2802421035","display_name":"Hospital General de M\u00e9xico","ror":"https://ror.org/01php1d31","country_code":"MX","type":"healthcare","lineage":["https://openalex.org/I2802421035","https://openalex.org/I4210095685"]},{"id":"https://openalex.org/I4210098197","display_name":"Hospital Angeles Clinica Londres","ror":"https://ror.org/00f20ws83","country_code":"MX","type":"healthcare","lineage":["https://openalex.org/I4210098197"]}],"countries":["MX"],"is_corresponding":true,"raw_author_name":"Karla Salinas\u2010Barboza","raw_affiliation_strings":["Neurology Department General Hospital of M\u00e9xico \u2018Dr. Eduardo Liceaga\u2019  Mexico City Mexico","Neurology Department Hospital Angeles Cl\u00ednica Londres  Mexico City Mexico"],"raw_orcid":"https://orcid.org/0000-0003-0366-8172","affiliations":[{"raw_affiliation_string":"Neurology Department General Hospital of M\u00e9xico \u2018Dr. Eduardo Liceaga\u2019  Mexico City Mexico","institution_ids":["https://openalex.org/I2802421035"]},{"raw_affiliation_string":"Neurology Department Hospital Angeles Cl\u00ednica Londres  Mexico City Mexico","institution_ids":["https://openalex.org/I4210098197"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5002038839","https://openalex.org/A5061895083"],"corresponding_institution_ids":["https://openalex.org/I2802421035","https://openalex.org/I4210098197"],"apc_list":{"value":3400,"currency":"USD","value_usd":3400},"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10919","display_name":"Deep Brain Stimulation and Movement Disorders","score":0.6880000233650208,"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/T10919","display_name":"Deep Brain Stimulation and Movement Disorders","score":0.6880000233650208,"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":0.21809999644756317,"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/T10493","display_name":"Ion channel regulation and function","score":0.042100001126527786,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/scn2a","display_name":"SCN2A","score":0.9959999918937683},{"id":"https://openalex.org/keywords/generalized-dystonia","display_name":"generalized dystonia","score":0.968999981880188},{"id":"https://openalex.org/keywords/phenotypic-spectrum","display_name":"phenotypic spectrum","score":0.8799999952316284},{"id":"https://openalex.org/keywords/sodium-channelopathy","display_name":"sodium channelopathy","score":0.6510000228881836},{"id":"https://openalex.org/keywords/hereditary-movement-disorders","display_name":"hereditary movement disorders","score":0.4259999990463257},{"id":"https://openalex.org/keywords/epilepsy","display_name":"epilepsy","score":0.3790000081062317}],"concepts":[{"id":"https://openalex.org/C2778559928","wikidata":"https://www.wikidata.org/wiki/Q906492","display_name":"Dystonia","level":2,"score":0.5550000071525574},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5419999957084656},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.538100004196167},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.459199994802475},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.4291999936103821},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.428600013256073},{"id":"https://openalex.org/C156778621","wikidata":"https://www.wikidata.org/wiki/Q1365748","display_name":"Spectrum (functional analysis)","level":2,"score":0.4074000120162964},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.37529999017715454},{"id":"https://openalex.org/C2779473830","wikidata":"https://www.wikidata.org/wiki/Q1540899","display_name":"MEDLINE","level":2,"score":0.34450000524520874},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3440000116825104},{"id":"https://openalex.org/C2779915905","wikidata":"https://www.wikidata.org/wiki/Q651270","display_name":"Letter to the editor","level":2,"score":0.320499986410141},{"id":"https://openalex.org/C2992477034","wikidata":"https://www.wikidata.org/wiki/Q83042","display_name":"Clinical neurology","level":2,"score":0.3190999925136566},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2953999936580658},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.28929999470710754},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.272599995136261},{"id":"https://openalex.org/C9357733","wikidata":"https://www.wikidata.org/wiki/Q6878417","display_name":"Missing data","level":2,"score":0.26429998874664307},{"id":"https://openalex.org/C3020646490","wikidata":"https://www.wikidata.org/wiki/Q25203551","display_name":"Clinical phenotype","level":4,"score":0.25540000200271606}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.1002/mdc3.70794","doi":"https://doi.org/10.1002/mdc3.70794","is_oa":false,"landing_page_url":"https://doi.org/10.1002/mdc3.70794","pdf_url":null,"source":{"id":"https://openalex.org/S2764712647","display_name":"Movement Disorders Clinical Practice","issn_l":"2330-1619","issn":["2330-1619"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-20","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Movement Disorders Clinical Practice","raw_type":"journal-article"},{"id":"pmid:42631556","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42631556","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":"Movement disorders clinical practice","raw_type":"Letter"},{"id":"pmh:oai:pubmedcentral.nih.gov:13499358","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13499358/","pdf_url":null,"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Mov Disord Clin Pract","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:13499358","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13499358/","pdf_url":null,"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Mov Disord Clin Pract","raw_type":"Text"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.46810001134872437}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":1,"referenced_works":["https://openalex.org/W4416724057"],"related_works":["https://openalex.org/W7203984804","https://openalex.org/W4416724057","https://openalex.org/W7138910022","https://openalex.org/W7099459512","https://openalex.org/W4415081370","https://openalex.org/W4407858480","https://openalex.org/W1501799429","https://openalex.org/W7123357706","https://openalex.org/W3176030964","https://openalex.org/W4384926115"],"abstract_inverted_index":{"The":[0,17,34],"data":[1,18],"that":[2],"support":[3],"the":[4,14,40,50,62,66],"findings":[5],"of":[6,44],"this":[7],"study":[8],"are":[9,19],"available":[10,22],"on":[11],"request":[12],"from":[13],"corresponding":[15,63],"author.":[16],"not":[20,37],"publicly":[21],"due":[23],"to":[24,61],"privacy":[25],"or":[26,42],"ethical":[27],"restrictions.":[28],"Data":[29],"S1.":[30],"COI_disclosure.":[31],"Please":[32],"note:":[33],"publisher":[35],"is":[36],"responsible":[38],"for":[39,65],"content":[41],"functionality":[43],"any":[45],"supporting":[46],"information":[47],"supplied":[48],"by":[49],"authors.":[51],"Any":[52],"queries":[53],"(other":[54],"than":[55],"missing":[56],"content)":[57],"should":[58],"be":[59],"directed":[60],"author":[64],"article.":[67]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2026-08-23T00:00:00"}