{"doi":"10.1542/peds.2015-1807","title":"Incidence of Dravet Syndrome in a US Population","abstract":"<jats:sec><jats:title>OBJECTIVE:</jats:title><jats:p>De novo mutations of the gene sodium channel 1α (SCN1A) are the major cause of Dravet syndrome, an infantile epileptic encephalopathy. US incidence of DS has been estimated at 1 in 40 000, but no US epidemiologic studies have been performed since the advent of genetic testing.</jats:p></jats:sec><jats:sec><jats:title>METHODS:</jats:title><jats:p>In a retrospective, population-based cohort of all infants born at Kaiser Permanente Northern California during 2007–2010, we electronically identified patients who received ≥2 seizure diagnoses before age 12 months and who were also prescribed anticonvulsants at 24 months. A child neurologist reviewed records to identify infants who met 4 of 5 criteria for clinical Dravet syndrome: normal development before seizure onset; ≥2 seizures before age 12 months; myoclonic, hemiclonic, or generalized tonic-clonic seizures; ≥2 seizures lasting &amp;gt;10 minutes; and refractory seizures after age 2 years. SCN1A gene sequencing was performed as part of routine clinical care.</jats:p></jats:sec><jats:sec><jats:title>RESULTS:</jats:title><jats:p>Eight infants met the study criteria for clinical Dravet syndrome, yielding an incidence of 1 per 15 700. Six of these infants (incidence of 1 per 20 900) had a de novo SCN1A missense mutation that is likely to be pathogenic. One infant had an inherited SCN1A variant that is unlikely to be pathogenic. All 8 experienced febrile seizures, and 6 had prolonged seizures lasting &amp;gt;10 minutes by age 1 year.</jats:p></jats:sec><jats:sec><jats:title>CONCLUSIONS:</jats:title><jats:p>Dravet syndrome due to an SCN1A mutation is twice as common in the United States as previously thought. Genetic testing should be considered in children with ≥2 prolonged febrile seizures by 1 year of age.</jats:p></jats:sec>","journal":"Pediatrics","year":2015,"id":27156,"datarank":12.27734630153809,"base_score":5.484796933490655,"endowment":5.484796933490655,"self_citation_contribution":0.8227195400235984,"citation_network_contribution":11.454626761514492,"self_endowment_contribution":0.8227195400235984,"citer_contribution":11.454626761514492,"corpus_percentile":null,"corpus_rank":null,"citation_count":240,"citer_count":200,"citers_with_citation_signal":190,"citers_with_endowment":190,"datacite_reuse_total":2,"is_dataset":false,"is_dataset_confidence":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":154440,"name":"Joseph Sullivan","orcid":null,"position":1,"is_corresponding":false},{"id":155399,"name":"Sharon S. McDaniel","orcid":null,"position":2,"is_corresponding":false},{"id":155400,"name":"Miriam H. Meisler","orcid":null,"position":3,"is_corresponding":false},{"id":155401,"name":"Eileen M. Walsh","orcid":null,"position":4,"is_corresponding":false},{"id":155402,"name":"Sherian Xu Li","orcid":null,"position":5,"is_corresponding":false},{"id":155403,"name":"Michael W. Kuzniewicz","orcid":null,"position":6,"is_corresponding":false},{"id":155398,"name":"Yvonne W. Wu","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"base_score":5.484796933490655,"endowment":5.484796933490655,"datacite_reuse_total":2,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"26438699","pmcid":"PMC4621800","openalex_id":"https://openalex.org/W2398625550","authors":[],"funders":[{"funder_name":"NINDS NIH HHS","grant_id":"R01 NS034509","title":null},{"funder_name":"NINDS NIH HHS","grant_id":"R01 NS34509","title":null}],"total_grants":2,"fwci":8.3795,"citation_percentile":0.98402416,"influential_citations":8,"citation_trend":[{"year":2015,"count":1},{"year":2016,"count":3},{"year":2017,"count":13},{"year":2018,"count":23},{"year":2019,"count":28},{"year":2020,"count":16},{"year":2021,"count":40},{"year":2022,"count":31},{"year":2023,"count":26},{"year":2024,"count":32},{"year":2025,"count":18},{"year":2026,"count":8}],"oa_status":"bronze","license":null,"oa_locations":[{"url":"https://pediatrics.aappublications.org/content/pediatrics/136/5/e1310.full.pdf","host_type":"journal"},{"url":"https://escholarship.org/content/qt921064d5/qt921064d5.pdf?t=rtmln5","host_type":"GREEN"},{"url":"https://pediatrics.aappublications.org/content/pediatrics/136/5/e1310.full.pdf","host_type":"publisher"},{"url":"https://publications.aap.org/pediatrics/article-pdf/136/5/e1310/1094469/peds_2015-1807.pdf","host_type":"publisher"},{"url":"https://doi.org/10.1542/peds.2015-1807","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/26438699","host_type":"repository"},{"url":"https://escholarship.org/uc/item/921064d5","host_type":""},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4621800","host_type":"repository"},{"url":"https://escholarship.org/content/qt921064d5/qt921064d5.pdf","host_type":""}],"fields_of_study":["Epilepsy research and treatment","Ion channel regulation and function","Ion Transport and Channel Regulation","Medicine","California","Epilepsies, Myoclonic","Female","Humans","Incidence","Magnetic Resonance Imaging","Male","Mutation, Missense","NAV1.1 Voltage-Gated Sodium Channel","Retrospective Studies"],"mesh_terms":["California","Epilepsies, Myoclonic","Female","Humans","Magnetic Resonance Imaging","Male","Retrospective Studies","Incidence","Mutation, Missense","NAV1.1 Voltage-Gated Sodium Channel"],"keywords":["Dravet syndrome","Medicine","Pediatrics","Epilepsy","Incidence (geometry)","Cohort","Population","Myoclonic epilepsy","Epilepsy syndromes","Encephalopathy","Retrospective cohort study","Internal medicine","Psychiatry"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[{"doi":"10.6084/m9.figshare.25397497.v1","title":"Additional file 1 of A systematic review of real-world evidence (RWE) supportive of new drug and biologic license application approvals in rare diseases","publisher":"figshare","resource_type":"Dataset"},{"doi":"10.6084/m9.figshare.25397497","title":"Additional file 1 of A systematic review of real-world evidence (RWE) supportive of new drug and biologic license application approvals in rare diseases","publisher":"figshare","resource_type":"Dataset"}],"clinical_trials":[],"software_tools":[],"database_accessions":[{"name":"omim"}],"source":"live","citation_network_status":"fetched"},"created_at":"2026-06-08T16:43:17.641603Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}