{
  "abstract": "Genomic testing is being recognized as an integral part of the management of individuals with epilepsy. However, despite the increasing utility of genomic testing in epilepsy, a substantial proportion of patients who are suspected to have a monogenic cause do not receive a molecular diagnosis. Reanalyzing existing genomic data increases the molecular diagnostic yield over time. As our understanding of the molecular components of epilepsy is changing faster than that of many other conditions, the re-analysis of existing genomic data from patients with epilepsy holds considerable potential for improving diagnostic outcomes.\n\nGiven the complexity involved in the re-analysis of existing genomic data, neurologists may be unsure how to best incorporate this into their clinical practice following an initial uninformative genomic result. Here, we describe recommendations specifically designed to guide the re-analysis of existing genomic data for individuals with epilepsy with an unknown etiology. We synthesize current evidence and apply these findings to the specifics of genetic epilepsy to determine the best approaches to integrate re-analysis into clinical practice in a sustainable manner that maximizes benefits to patients.",
  "abstract_shown": true,
  "affiliations": [
    "Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia",
    "Medical Genomics Group, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia",
    "Queensland Digital Health Centre, University of Queensland, Brisbane, QLD, Australia",
    "Sullivan Nicolaides Pathology, Brisbane, Australia",
    "Murdoch Children’s Research Institute, Parkville, VIC, Australia",
    "Department of Paediatrics, Melbourne Medical School, The University of Melbourne, Parkville, VIC, Australia",
    "Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia",
    "Precision Immunology Program, Garvan Institute of Medical Research, Sydney, NSW, Australia",
    "Department of Immunology, Nepean Hospital, Sydney, NSW, Australia",
    "Virtus Diagnostics, Sydney, NSW, Australia",
    "Frazer Institute, The University of Queensland, Brisbane, QLD, Australia",
    "Department of Neurology, Royal Brisbane & Women's Hospital, Brisbane, QLD, Australia",
    "Metro North Hospital and Health Service, Department of Health, Queensland Government, Brisbane, QLD, Australia",
    "Australian Genomics, Melbourne, VIC, Australia",
    "University of Melbourne, Melbourne, VIC, Australia"
  ],
  "article_type": "review article",
  "arxiv": null,
  "author_total": 8,
  "authors": [
    {
      "affs": [
        0,
        1,
        2,
        3
      ],
      "name": "Alan J. Robertson"
    },
    {
      "affs": [
        4,
        5,
        6
      ],
      "name": "Natalie B. Tan"
    },
    {
      "affs": [
        7,
        8,
        9
      ],
      "name": "Pei Dai"
    },
    {
      "affs": [
        10,
        11
      ],
      "name": "Carmen Bennett"
    },
    {
      "affs": [
        0,
        2,
        12
      ],
      "name": "Clair Sullivan"
    },
    {
      "affs": [
        6,
        13,
        14
      ],
      "name": "Zornitza Stark"
    },
    {
      "affs": [
        10,
        11
      ],
      "name": "Lata Vadlamudi"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Nicola Waddell"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/fa10b887wsn8n.bib",
  "cited_by": 0,
  "doi": "10.1016/j.gimo.2026.104494",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13734808/",
  "id": "fa10b887wsn8n",
  "issns": [
    "2949-7744"
  ],
  "landing_url": "https://doi.org/10.1016/j.gimo.2026.104494",
  "language": "en",
  "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": [
    [
      "heading",
      "Review"
    ],
    [
      "openalex",
      "2728|Epilepsy research and treatment"
    ]
  ],
  "openalex": "W7212150172",
  "pdf_url": "https://www.gimopen.org/article/S2949-7744(26)01004-6/pdf",
  "pmcid": "PMC13734808",
  "pmid": "42990822",
  "published": "2026-09-10",
  "publisher": "Elsevier",
  "ris": "https://research.draconitic.com/paper/fa10b887wsn8n.ris",
  "sources": [
    {
      "first_seen": "2026-11-09T12:20:37Z",
      "native_id": "PMC13734808",
      "source": "pmc",
      "url": "https://doi.org/10.1016/j.gimo.2026.104494"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2728|Epilepsy research and treatment",
      "subfield": "neurology"
    }
  ],
  "title": "Recommendations for the re-analysis of existing genomic data from patients with epilepsy",
  "title_text": "Recommendations for the re-analysis of existing genomic data from patients with epilepsy",
  "type": "peer-reviewed",
  "updated_at": "2026-11-09T12:20:37Z",
  "url": "https://research.draconitic.com/paper/fa10b887wsn8n",
  "venue": "Genetics in Medicine Open",
  "versions": []
}