{
  "abstract": "Increased white matter (WM) heterotopic neurons are a pathological feature observed in various neurological and psychiatric disorders. Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is a drug-resistant epilepsy-associated cortical malformation characterized by increased WM heterotopic neurons and OLIG2-positive cells and frequently associated with somatic SLC35A2 mutations. However, the precise cellular identity of these heterotopic neurons remains unclear. Using imaging-based spatial transcriptomics (iST) of SLC35A2-mutated MOGHE tissues, we found that most WM heterotopic neurons exhibited molecular signatures of excitatory neurons. Further analyses revealed that these heterotopic excitatory neurons included prominent populations with layer 6 corticothalamic (CT)-like and layer 6b subplate neuron (SpN)-like molecular features. These findings were further supported by human immunohistochemistry and a Slc35a2 conditional knockout (cKO) mouse model. Together, our results provide a cellular characterization of WM heterotopic neurons in MOGHE and suggest a new perspective on disease pathophysiology centered on deep-layer excitatory neuronal populations.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Biochemistry and Cellular Biology, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan"
  ],
  "article_type": "New results",
  "arxiv": null,
  "author_total": 14,
  "authors": [
    {
      "name": "N. K. N. Tabe"
    },
    {
      "name": "S. Miyashita"
    },
    {
      "name": "K. Yagita"
    },
    {
      "name": "K. Iijima"
    },
    {
      "name": "K. Shimaoka"
    },
    {
      "name": "A. Hosaka"
    },
    {
      "name": "S. Okumiya"
    },
    {
      "name": "K. Nishitani"
    },
    {
      "name": "E. Usukura"
    },
    {
      "name": "K. Murayama"
    },
    {
      "name": "T. Sano"
    },
    {
      "name": "M. Takao"
    },
    {
      "name": "M. Iwasaki"
    },
    {
      "affs": [
        0
      ],
      "name": "M. Hoshino"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/6778rm3wtshp5.bib",
  "cited_by": 0,
  "doi": "10.64898/2026.09.04.749069",
  "fulltext_url": "https://www.biorxiv.org/content/10.64898/2026.09.04.749069v1.full",
  "id": "6778rm3wtshp5",
  "issns": [],
  "landing_url": "https://www.biorxiv.org/content/10.64898/2026.09.04.749069v1",
  "language": null,
  "licence": "CC-BY-ND",
  "licence_label": "CC BY-ND",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "biorxiv",
      "neuroscience"
    ],
    [
      "openalex",
      "2738|Epilepsy research and treatment"
    ]
  ],
  "openalex": "W7212052790",
  "pdf_url": "https://www.biorxiv.org/content/10.64898/2026.09.04.749069v1.full.pdf",
  "pmcid": null,
  "pmid": null,
  "published": "2026-09-04",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/6778rm3wtshp5.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:20:19Z",
      "native_id": "10.64898/2026.09.04.749069",
      "source": "biorxiv",
      "url": "https://www.biorxiv.org/content/10.64898/2026.09.04.749069v1"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "biorxiv:neuroscience",
      "subfield": "neuroscience"
    }
  ],
  "title": "Spatial transcriptomics identifies L6 corticothalamic and L6b subplate-like heterotopic neurons in an epileptogenic SLC35A2-associated brain malformation.",
  "title_text": "Spatial transcriptomics identifies L6 corticothalamic and L6b subplate-like heterotopic neurons in an epileptogenic SLC35A2-associated brain malformation.",
  "type": "preprint",
  "updated_at": "2026-10-30T12:20:19Z",
  "url": "https://research.draconitic.com/paper/6778rm3wtshp5",
  "venue": "bioRxiv",
  "versions": []
}