{
  "abstract": "Background: Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy, and data from low- and middle-income countries remain scarce. We characterized the clinical, genetic, and therapeutic profiles of patients with DS at a Brazilian tertiary referral center. Methods: This retrospective cross-sectional study included 27 patients with clinically and genetically confirmed DS (pathogenic/likely pathogenic SCN1A variants). Outcomes were ≥6-month and ≥12-month seizure freedom and seizure control in the previous month, described by treatment exposure without inferential testing. Results: The median age at seizure onset was 4 months and at diagnosis 42 months; the median individual onset-to-diagnosis interval was 29 months (range, 4–283; n = 14). All patients received polytherapy; 51.9% used cannabidiol, 40.7% vagus nerve stimulation, and 7.4% fenfluramine. Only 2/20 patients (10.0%) achieved ≥6-month and 1/20 (5.0%) ≥ 12-month seizure freedom. All six patients seizure-free in the previous month were receiving valproate, a descriptive finding likely reflecting confounding by indication. Recorded comorbidities, mainly autism spectrum disorder (29.6%), were likely underestimated in the absence of systematic neurodevelopmental assessment. Conclusions: This Brazilian DS cohort showed marked diagnostic delay, high seizure burden, and limited access to DS-specific therapies. These findings support earlier genetic testing and broader access to recommended treatments and generate hypotheses for larger prospective studies.",
  "abstract_shown": true,
  "affiliations": [
    "Faculdades Pequeno Príncipe, Curitiba 80230-020, PR, Brazil",
    "Hospital Pequeno Príncipe, Curitiba 80250-060, PR, Brazil",
    "Instituto de Pesquisa Pelé Pequeno Príncipe, Curitiba 80250-060, PR, Brazil",
    "Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90025, USA"
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 7,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Lisandra Coneglian de Farias Rigoldi"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Daniel Almeida do Valle",
      "orcid": "0000-0001-9005-6726"
    },
    {
      "affs": [
        1
      ],
      "name": "Mayla Cristine de Souza"
    },
    {
      "affs": [
        1
      ],
      "name": "Maria Augusta Kormann"
    },
    {
      "affs": [
        1
      ],
      "name": "Solena A. Fidalski"
    },
    {
      "affs": [
        1
      ],
      "name": "Mara Lucia S. F. Santos"
    },
    {
      "affs": [
        0,
        2,
        3
      ],
      "name": "Mara L. Cordeiro",
      "orcid": "0000-0002-0235-8001"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/be2ry82p1y2hh.bib",
  "cited_by": 0,
  "doi": "10.3390/jcm15208034",
  "fulltext_url": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13705814/?tool=EBI",
  "id": "be2ry82p1y2hh",
  "issns": [
    "2077-0383"
  ],
  "landing_url": "https://www.mdpi.com/2077-0383/15/20/8034",
  "language": "eng",
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "2738|Epilepsy research and treatment"
    ]
  ],
  "openalex": "W7222560251",
  "pdf_url": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13705814/pdf/?tool=EBI",
  "pmcid": "PMC13705814",
  "pmid": null,
  "published": "2026-10-01",
  "publisher": "MDPI AG",
  "ris": "https://research.draconitic.com/paper/be2ry82p1y2hh.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:20:00Z",
      "native_id": "10.3390/jcm15208034",
      "source": "crossref",
      "url": "https://www.mdpi.com/2077-0383/15/20/8034"
    },
    {
      "first_seen": "2026-10-30T12:21:44Z",
      "native_id": "PMC:PMC13705814",
      "source": "europepmc",
      "url": "https://europepmc.org/article/PMC/PMC13705814"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2738|Epilepsy research and treatment",
      "subfield": "psychiatry"
    }
  ],
  "title": "Clinical and Therapeutic Profile of Dravet Syndrome in Patients Followed at a Brazilian Pediatric Referral Center: Real-World Data from a Tertiary Service",
  "title_text": "Clinical and Therapeutic Profile of Dravet Syndrome in Patients Followed at a Brazilian Pediatric Referral Center: Real-World Data from a Tertiary Service",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:21:44Z",
  "url": "https://research.draconitic.com/paper/be2ry82p1y2hh",
  "venue": "Journal of Clinical Medicine",
  "versions": []
}