{"id":"https://openalex.org/W3136862797","doi":"https://doi.org/10.1212/wnl.0000000000011891","title":"Child Neurology: Late-Onset Vitamin B 6 \u2013Dependent Epilepsy Identified by Rapid Genome Sequencing","display_name":"Child Neurology: Late-Onset Vitamin B 6 \u2013Dependent Epilepsy Identified by Rapid Genome Sequencing","publication_year":2021,"publication_date":"2021-03-25","ids":{"openalex":"https://openalex.org/W3136862797","doi":"https://doi.org/10.1212/wnl.0000000000011891","mag":"3136862797","pmid":"https://pubmed.ncbi.nlm.nih.gov/33766999"},"language":"en","primary_location":{"id":"doi:10.1212/wnl.0000000000011891","doi":"https://doi.org/10.1212/wnl.0000000000011891","is_oa":true,"landing_page_url":"https://doi.org/10.1212/wnl.0000000000011891","pdf_url":"https://n.neurology.org/content/neurology/96/19/911.full.pdf","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","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://n.neurology.org/content/neurology/96/19/911.full.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5076612323","display_name":"Audie C. Espinoza","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]},{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"A. Chris Espinoza","raw_affiliation_strings":["From the Department of Pediatrics, Division of Pediatric Neurology, University of Utah, Salt Lake City. Cristina Trandafir is currently at Baylor College of Medicine, Houston, TX"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Pediatrics, Division of Pediatric Neurology, University of Utah, Salt Lake City. Cristina Trandafir is currently at Baylor College of Medicine, Houston, TX","institution_ids":["https://openalex.org/I181547552","https://openalex.org/I223532165"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059121873","display_name":"Melissa A. Wright","orcid":"https://orcid.org/0000-0002-7804-9627","observed_orcids":["https://orcid.org/0000-0002-7804-9627"]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]},{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Melissa A. Wright","raw_affiliation_strings":["From the Department of Pediatrics, Division of Pediatric Neurology, University of Utah, Salt Lake City. Cristina Trandafir is currently at Baylor College of Medicine, Houston, TX"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Pediatrics, Division of Pediatric Neurology, University of Utah, Salt Lake City. Cristina Trandafir is currently at Baylor College of Medicine, Houston, TX","institution_ids":["https://openalex.org/I181547552","https://openalex.org/I223532165"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055955550","display_name":"Meghan S. Candee","orcid":"https://orcid.org/0000-0001-5587-3472","observed_orcids":["https://orcid.org/0000-0001-5587-3472"]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]},{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Meghan S. Candee","raw_affiliation_strings":["From the Department of Pediatrics, Division of Pediatric Neurology, University of Utah, Salt Lake City. Cristina Trandafir is currently at Baylor College of Medicine, Houston, TX"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Pediatrics, Division of Pediatric Neurology, University of Utah, Salt Lake City. Cristina Trandafir is currently at Baylor College of Medicine, Houston, TX","institution_ids":["https://openalex.org/I181547552","https://openalex.org/I223532165"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091775496","display_name":"Cristina Trandafir","orcid":"https://orcid.org/0000-0002-8624-7025","observed_orcids":["https://orcid.org/0000-0002-8624-7025"]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]},{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Cristina Trandafir","raw_affiliation_strings":["From the Department of Pediatrics, Division of Pediatric Neurology, University of Utah, Salt Lake City. Cristina Trandafir is currently at Baylor College of Medicine, Houston, TX"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Pediatrics, Division of Pediatric Neurology, University of Utah, Salt Lake City. Cristina Trandafir is currently at Baylor College of Medicine, Houston, TX","institution_ids":["https://openalex.org/I181547552","https://openalex.org/I223532165"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5091351892","display_name":"Gary Rex Nelson","orcid":"https://orcid.org/0000-0002-2948-5932","observed_orcids":["https://orcid.org/0000-0002-2948-5932"]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]},{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Gary R. Nelson","raw_affiliation_strings":["From the Department of Pediatrics, Division of Pediatric Neurology, University of Utah, Salt Lake City. Cristina Trandafir is currently at Baylor College of Medicine, Houston, TX"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Pediatrics, Division of Pediatric Neurology, University of Utah, Salt Lake City. Cristina Trandafir is currently at Baylor College of Medicine, Houston, TX","institution_ids":["https://openalex.org/I181547552","https://openalex.org/I223532165"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":1.2301,"has_fulltext":true,"cited_by_count":10,"citation_normalized_percentile":{"value":0.72361933,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"96","issue":"19","first_page":"911","last_page":"914"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.8389000296592712,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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"}},"topics":[{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.8389000296592712,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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/T10094","display_name":"Epilepsy research and treatment","score":0.15479999780654907,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.0010999999940395355,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/pyridoxal-5-phosphate","display_name":"pyridoxal phosphate","score":0.847000002861023},{"id":"https://openalex.org/keywords/pyridoxine-therapy","display_name":"pyridoxine therapy","score":0.8199999928474426},{"id":"https://openalex.org/keywords/refractory-seizures","display_name":"refractory seizures","score":0.8100000023841858},{"id":"https://openalex.org/keywords/status-epilepticus","display_name":"status epilepticus","score":0.8920000195503235},{"id":"https://openalex.org/keywords/rapid-genome-sequencing","display_name":"rapid genome sequencing","score":0.8849999904632568},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.47600001096725464},{"id":"https://openalex.org/keywords/pediatric-epilepsy","display_name":"pediatric epilepsy","score":0.5870000123977661},{"id":"https://openalex.org/keywords/aldh7a1","display_name":"ALDH7A1","score":0.847000002861023},{"id":"https://openalex.org/keywords/alpl","display_name":"ALPL","score":0.8709999918937683},{"id":"https://openalex.org/keywords/aldh4a1","display_name":"ALDH4A1","score":0.9959999918937683}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7094569206237793},{"id":"https://openalex.org/C2776514930","wikidata":"https://www.wikidata.org/wiki/Q423746","display_name":"Pyridoxine","level":2,"score":0.6798636317253113},{"id":"https://openalex.org/C16568411","wikidata":"https://www.wikidata.org/wiki/Q83042","display_name":"Neurology","level":2,"score":0.6295264363288879},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.6171663403511047},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.6041932106018066},{"id":"https://openalex.org/C2777341932","wikidata":"https://www.wikidata.org/wiki/Q980709","display_name":"Status epilepticus","level":3,"score":0.6023738980293274},{"id":"https://openalex.org/C2778621155","wikidata":"https://www.wikidata.org/wiki/Q576349","display_name":"Encephalopathy","level":2,"score":0.5154248476028442},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.4936028718948364},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.40101712942123413},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.305342435836792},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.17772123217582703},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.12138918042182922}],"mesh":[{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":false},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":false},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":false},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011736","descriptor_name":"Pyridoxine","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":false},{"descriptor_ui":"D011736","descriptor_name":"Pyridoxine","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":false},{"descriptor_ui":"D011736","descriptor_name":"Pyridoxine","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":false},{"descriptor_ui":"D014803","descriptor_name":"Vitamin B Complex","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":false},{"descriptor_ui":"D014803","descriptor_name":"Vitamin B Complex","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":false},{"descriptor_ui":"D014803","descriptor_name":"Vitamin B Complex","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":false},{"descriptor_ui":"D025101","descriptor_name":"Vitamin B 6","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D025101","descriptor_name":"Vitamin B 6","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D025101","descriptor_name":"Vitamin B 6","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D026681","descriptor_name":"Vitamin B 6 Deficiency","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D026681","descriptor_name":"Vitamin B 6 Deficiency","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D026681","descriptor_name":"Vitamin B 6 Deficiency","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D026681","descriptor_name":"Vitamin B 6 Deficiency","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":false},{"descriptor_ui":"D026681","descriptor_name":"Vitamin B 6 Deficiency","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":false},{"descriptor_ui":"D026681","descriptor_name":"Vitamin B 6 Deficiency","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":false},{"descriptor_ui":"D026681","descriptor_name":"Vitamin B 6 Deficiency","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D026681","descriptor_name":"Vitamin B 6 Deficiency","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D026681","descriptor_name":"Vitamin B 6 Deficiency","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1212/wnl.0000000000011891","doi":"https://doi.org/10.1212/wnl.0000000000011891","is_oa":true,"landing_page_url":"https://doi.org/10.1212/wnl.0000000000011891","pdf_url":"https://n.neurology.org/content/neurology/96/19/911.full.pdf","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":"pmid:33766999","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/33766999","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","raw_type":"Case Reports"}],"best_oa_location":{"id":"doi:10.1212/wnl.0000000000011891","doi":"https://doi.org/10.1212/wnl.0000000000011891","is_oa":true,"landing_page_url":"https://doi.org/10.1212/wnl.0000000000011891","pdf_url":"https://n.neurology.org/content/neurology/96/19/911.full.pdf","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"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":1.0}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8199999928474426}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3136862797.pdf","grobid_xml":"https://content.openalex.org/works/W3136862797.grobid-xml"},"referenced_works_count":10,"referenced_works":["https://openalex.org/W2231071059","https://openalex.org/W2557650711","https://openalex.org/W2560344182","https://openalex.org/W2564604042","https://openalex.org/W2604963565","https://openalex.org/W2795749588","https://openalex.org/W2894227787","https://openalex.org/W2936874702","https://openalex.org/W2956112893","https://openalex.org/W2977360786"],"related_works":["https://openalex.org/W3130393306","https://openalex.org/W3108099916","https://openalex.org/W4313280036","https://openalex.org/W2977360786","https://openalex.org/W4324355431","https://openalex.org/W3101912481","https://openalex.org/W2327895202","https://openalex.org/W181870388","https://openalex.org/W4414422139","https://openalex.org/W4383868220"],"abstract_inverted_index":{"Hundreds":[0],"of":[1,16,26,49,56,72,76,82,102,117,150,164,173],"distinct":[2],"epilepsy-causing":[3],"genes":[4,43],"have":[5,44],"been":[6,45],"identified.1":[7],"The":[8,30],"vitamin":[9,50],"B6-dependent":[10,51],"epilepsies":[11,52],"are":[12],"a":[13,103,135],"heterogeneous":[14],"group":[15],"genetic":[17,175],"disorders":[18],"due":[19],"to":[20,61,94],"incomplete":[21],"formation,":[22],"transport,":[23],"or":[24,69,78],"inactivation":[25],"pyridoxal":[27,124],"5\u2032-phosphate":[28],"(PLP).2":[29],"ALDH7A1":[31],",":[32,34,36,38],"PNPO":[33],"ALPL":[35],"ALDH4A1":[37],"and":[39,58,119,153,162],"more":[40],"recently":[41],"PLPBP":[42],"implicated.3":[46],"Characteristic":[47],"presentation":[48],"includes":[53],"neonatal":[54],"onset":[55],"encephalopathy":[57],"seizures":[59,73,112],"refractory":[60,111],"first-line":[62],"antiseizure":[63],"medications":[64],"(ASMs)":[65],"followed":[66],"by":[67],"cessation":[68,149],"dramatic":[70],"improvement":[71],"after":[74],"administration":[75],"pyridoxine":[77,146],"PLP.":[79],"Because":[80],"initiation":[81],"proper":[83],"treatment":[84],"is":[85,92],"essential":[86],"for":[87,139,171],"seizure":[88,151],"control,":[89],"timely":[90],"diagnosis":[91],"critical":[93,136],"optimizing":[95],"clinical":[96],"outcome.":[97],"We":[98,157],"describe":[99],"the":[100,159,178],"case":[101],"3-year-old":[104],"boy":[105],"who":[106],"presented":[107],"with":[108,123,147],"progressively":[109],"worsening":[110],"starting":[113],"at":[114],"14":[115],"months":[116],"age":[118],"was":[120,143],"subsequently":[121],"diagnosed":[122],"phosphate":[125],"homeostasis":[126],"protein":[127],"(PLPHP)":[128],"deficiency":[129],"via":[130],"rapid":[131,174],"genome":[132],"sequencing":[133],"during":[134],"care":[137,180],"hospitalization":[138],"status":[140],"epilepticus.":[141],"He":[142],"started":[144],"on":[145],"immediate":[148],"activity":[152],"has":[154],"remained":[155],"seizure-free.":[156],"review":[158],"diagnosis,":[160],"management,":[161],"outcome":[163],"PLPHP":[165],"deficiency,":[166],"as":[167,169],"well":[168],"implications":[170],"use":[172],"testing":[176],"in":[177],"acute":[179],"setting.":[181]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":1}],"updated_date":"2026-10-01T08:54:57.152042","created_date":"2021-03-29T00:00:00"}
