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    Please use this identifier to cite or link to this item: https://nccur.lib.nccu.edu.tw/handle/140.119/157162


    Title: 以CDKL5缺失小鼠研究早發性癲癇之病因及療癒
    Studying the Pathogenesis and Interventions of Early-Onset Epilepsy in Mouse Models of Cdkl5 Deficiency Disorder
    Authors: 廖文霖
    Contributors: 神科所
    Keywords: 第五型類週期素依賴激酶;早發性癲癇;伽馬胺基丁酸;鉀氯共轉運子;CDKL5缺失疾患
    CDKL5;early-onset seizure;GABA;KCC2;CDD
    Date: 2022-11
    Issue Date: 2025-05-29 11:56:54 (UTC+8)
    Abstract: CDKL5缺失疾患為CDKL5基因突變所造成。患者大多在出生後六週內頻繁發生癲癇，導致日後智能與行為缺損。我們先前已發現CDKL5缺失小鼠於出生後兩週內其行為和腦波上均出現癲癇的徵狀，且其皮質中鉀氯共轉運子(KCC2)的磷酸化在癲癇發作的時間點有減少。由於KCC2的磷酸化決定神經細胞內氯離子濃度並控制神經興奮性，我們因此假設CDKL5缺失造成發育早期KCC2的功能低下，並導致細胞中氯離子累積而失去GABA主導的抑制作用，進而造成癲癇。本計畫將探討CDKL5缺失導致KCC2功能低下是否發生在出生後早期的特定時間與特定種類細胞上，也將測試KCC2的活化是否可改善CDKL5缺失小鼠的早發性癲癇。
    Relation: 科技部, MOST110-2320-B004-001, 110.08-111.07
    Data Type: report
    Appears in Collections:[神經科學研究所] 國科會研究計畫

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