• <table id="gigg0"></table>
  • west china medical publishers
    Keyword
    • Title
    • Author
    • Keyword
    • Abstract
    Advance search
    Advance search

    Search

    find Keyword "Developmental epileptic-dyskinetic encephalopathy" 1 results
    • Precision therapy of developmental and epileptic-dyskinetic encephalopathy

      Developmental epilepsy-dyskinetic encephalopathy (DEDE) is a collective term for a group of genetic disorders characterized by refractory involuntary (hyperkinetic) movements, often accompanied by severe drug-resistant epilepsy and developmental delay or regression, with a high rate of genetic diagnosis. Driven by multidisciplinary technologies—particularly next-generation sequencing—epilepsy genetics has made significant strides. This review delineates the landscape of genetic etiologies, clinical presentations and advancements in precision medicine for developmental epilepsy-dyskinetic encephalopathy. The manuscript focuses on how specific pathogenic genes disrupt core neurobiological processes, including ion channel function and neurotransmitter metabolism. It summarizes personalized treatment approaches already applied to certain monogenic epilepsies, heralding the era of precision medicine.

      Release date: Export PDF Favorites Scan
    1 pages Previous 1 Next

    Format

    Content

  • <table id="gigg0"></table>
  • 松坂南