The neuropathological findings of developmental and epileptic encephalopathy-43 (DEE43) and delineation of a the molecular spectrum of novel case.

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  • Additional Information
    • Source:
      Publisher: Elsevier Country of Publication: England NLM ID: 9306979 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2688 (Electronic) Linking ISSN: 10591311 NLM ISO Abbreviation: Seizure Subsets: MEDLINE
    • Publication Information:
      Publication: London : Elsevier
      Original Publication: London : Baillière Tindall, c1992-
    • Subject Terms:
      Brain Diseases*/drug therapy ; Electroencephalography*; Anticonvulsants/therapeutic use ; Brain/diagnostic imaging ; Child ; Developmental Disabilities/drug therapy ; Humans
    • Abstract:
      Developmental and epileptic encephalopathies (DEE) constitute an expanding group of severely disabling and, most frequently, drug-resistant disorders starting in the first year of life. Among them, there is DEE43, caused by dominant mutations in the GABRB3 gene. We present first neuropathological findings in a novel, molecularly confirmed case with the fatal course. The neuropathological analysis revealed co-existing developmental anomalies and retardation of myelination resulting from disturbed early brain growth as well as lesions caused by epileptic hypoxic-ischemic episodes. Developmental anomalies included misplaced neurons in the cerebellar white matter, heterotopic neurons in the cortical molecular layer and in the molecular layer of the hippocampal dentate gyrus, dysmorphic cerebellar dentate nuclei and inferior olivary nuclei in the medulla oblongata. The migrational and maturational disorders leading to the neuronal network dysfunction could be the cause of both the lack of development and the ineffectiveness of antiepileptic treatment in children affected by DEE. Giving the presented neuropathological description and based on the literature, we discuss the pathomechanism of the disease, to improve current understanding of both the lack of development and the ineffectiveness of treatment of affected children.
      (Copyright © 2021 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.)
    • Contributed Indexing:
      Keywords: DEE43; GABRB3 gene; Neuropathologic findings; Ohtahara syndrome
    • Accession Number:
      0 (Anticonvulsants)
    • Publication Date:
      Date Created: 20211030 Date Completed: 20211207 Latest Revision: 20211214
    • Publication Date:
      20240628
    • Accession Number:
      10.1016/j.seizure.2021.10.014
    • Accession Number:
      34717289