{
  "abstract": "Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is a recently recognized cortical malformation linked to epilepsy, characterized by subtle cortical and white matter (WM) abnormalities. Typical MOGHE is predominantly associated with somatic SLC35A2 variants, while the genetic and phenotypic spectrum of MOGHE-like cortical malformations remains incompletely understood, with diverse undetermined molecular mechanisms contributing to disease heterogeneity and epileptogenesis. We report an 8-year-old girl with early-onset, drug-resistant epilepsy localized to the right temporal lobe. Brain magnetic resonance imaging (MRI) revealed atypical enlargement and irregular morphological changes of the right temporal lobe with a disrupted gray-white matter (GM-WM) interface, presenting cyst-like malformative changes that deviate from classic MOGHE radiological features. Neuropathological examination demonstrated cortical architectural disturbance, dysoriented neuronal clusters, and mild oligodendroglial hyperplasia consistent with a MOGHE-like spectrum lesion, while no histopathological evidence of low-grade epilepsy-associated tumor or other neoplastic lesions was identified. Whole exome sequencing (WES) identified a heterozygous NRAS c.182A>G (p.Q61R) variant, which is predicted to be functionally deleterious and interpreted as a potentially pathogenic variant based on standard clinical and genetic criteria. The patient achieved favorable post-surgical seizure control, and the pathogenic contribution of this rare NRAS variant requires further validation. This case characterizes a rare epileptogenic MOGHE-like cortical malformation driven by a unique NRAS c.182A>G (p.Q61R) variant, expanding the molecular genetic spectrum of MOGHE-spectrum lesions. The findings indicate that alternative RAS-pathway molecular alterations may participate in the development of atypical MOGHE-like malformations and related epileptogenesis. This study underscores the necessity of comprehensive integration of radiological, histopathological, and genetic evidence for accurate diagnosis of atypical cortical developmental lesions, and provides novel insights for future mechanistic exploration and precision therapeutic research in refractory epilepsy associated with cortical malformations.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Pathology, Children's Hospital of Fudan University, Shanghai, China.",
    "Department of Pathology, Anhui Provincial Children's Hospital, Hefei, China.",
    "Department of Neurology, Children's Hospital of Fudan University, Shanghai, China.",
    "Management of Science and Technology, Children's Hospital of Fudan University, Shanghai, China.",
    "Shanghai Key Laboratory of Gene Editing and Cell Therapy for Rare Diseases, Fudan University, Shanghai, China.",
    "Center for Molecular Medicine, Children's Hospital of Fudan University, Shanghai, China."
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 7,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Yuan Fang",
      "orcid": "0000-0002-9915-2164"
    },
    {
      "affs": [
        2
      ],
      "name": "Tian-Shuang Wang"
    },
    {
      "affs": [
        3,
        4
      ],
      "name": "Wen-Juan Ma"
    },
    {
      "affs": [
        2
      ],
      "name": "Yuan-Feng Zhou"
    },
    {
      "affs": [
        5
      ],
      "name": "Bing-Bing Wu"
    },
    {
      "affs": [
        0
      ],
      "name": "Lian Chen",
      "orcid": "0000-0002-0545-2108"
    },
    {
      "affs": [
        2
      ],
      "name": "Yi Wang"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/ctya1rb9a2960.bib",
  "cited_by": 0,
  "doi": "10.21037/tp-2026-0595",
  "fulltext_url": "https://europepmc.org/articles/PMC13739839",
  "id": "ctya1rb9a2960",
  "issns": [
    "2224-4336",
    "2224-4344"
  ],
  "landing_url": "https://europepmc.org/article/MED/42996408",
  "language": "eng",
  "licence": "CC-BY-NC-ND",
  "licence_label": "CC BY-NC-ND",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "2728|Epilepsy research and treatment"
    ]
  ],
  "openalex": "W7223673370",
  "pdf_url": "https://europepmc.org/articles/PMC13739839?pdf=render",
  "pmcid": "PMC13739839",
  "pmid": "42996408",
  "published": "2026-09-30",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/ctya1rb9a2960.ris",
  "sources": [
    {
      "first_seen": "2026-11-09T15:20:41Z",
      "native_id": "MED:42996408",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42996408"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2728|Epilepsy research and treatment",
      "subfield": "neurology"
    }
  ],
  "title": "Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)-like spectrum with a unique NRAS c.182A>G (p.Q61R) variant: a case report.",
  "title_text": "Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)-like spectrum with a unique NRAS c.182A>G (p.Q61R) variant: a case report.",
  "type": "peer-reviewed",
  "updated_at": "2026-11-09T15:20:41Z",
  "url": "https://research.draconitic.com/paper/ctya1rb9a2960",
  "venue": "Translational pediatrics",
  "versions": []
}