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  1. 0 資料タイプ別
  2. 02 学位論文
  1. 250 大学院医歯学総合研究科(医)
  2. 60 博士学位論文
  3. 10 博士学位論文

CDKL5遺伝子病的バリアントを持つ日本人患者の臨床的特徴とてんかん治療について

http://hdl.handle.net/10191/0002000298
http://hdl.handle.net/10191/0002000298
63e2b344-57a1-4913-8886-c937935f1180
名前 / ファイル ライセンス アクション
r2nmk993.pdf 本文 (386KB)
r2nmk993_a.pdf 要旨 (546KB)
Item type 学位論文 / Thesis or Dissertation(1)
公開日 2022-04-04
タイトル
言語 en
タイトル Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants
タイトル
言語 ja
タイトル CDKL5遺伝子病的バリアントを持つ日本人患者の臨床的特徴とてんかん治療について
言語
言語 eng
キーワード
言語 en
主題Scheme Other
主題 CDKL5
キーワード
言語 en
主題Scheme Other
主題 Pathogenic variants
キーワード
言語 en
主題Scheme Other
主題 Developmental and epileptic encephalopathy
キーワード
言語 en
主題Scheme Other
主題 Involuntary movements
キーワード
言語 en
主題Scheme Other
主題 Antiepileptic drugs
キーワード
言語 en
主題Scheme Other
主題 Adrenocorticotrophic hormone
キーワード
言語 en
主題Scheme Other
主題 Ketogenic diet
キーワード
言語 en
主題Scheme Other
主題 Rational polytherapy
資源タイプ
資源 http://purl.org/coar/resource_type/c_db06
タイプ doctoral thesis
アクセス権
アクセス権 open access
アクセス権URI http://purl.org/coar/access_right/c_abf2
著者 小林, 悠

× 小林, 悠

en Kobayashi, Yu

ja 小林, 悠

Search repository
抄録
内容記述タイプ Abstract
内容記述 Objective: Patients with pathogenic cyclin-dependent kinase-like-5 gene (CDKL5) variants are designated CDKL5 deficiency disorder (CDD). This study aimed to delineate the clinical characteristics of Japanese patients with CDD and elucidate possible appropriate treatments. Methods: We recruited patients with pathogenic or likely pathogenic CDKL5 variants from a cohort of approximately 1,100 Japanese patients with developmental and epileptic encephalopathies, who underwent genetic analysis. We retrospectively reviewed clinical, electroencephalogram, neuroimaging, and genetic information. Results: We identified 29 patients (21 females, eight males). All patients showed severe developmental delay, especially in males. Involuntary movements were observed in 15 patients. No antiepileptic drugs (AEDs) achieved seizure freedom by monotherapy. AEDs achieving ≥ 50% reduction in seizure frequency were sodium valproate in two patients, vigabatrin in one, and lamotrigine in one. Seizure aggravation was observed during the use of lamotrigine, potassium bromide, and levetiracetam. Adrenocorticotrophic hormone (ACTH) was the most effective treatment. The ketogenic diet (KD), corpus callosotomy and vagus nerve stimulation did not improve seizure frequency in most patients, but KD was remarkably effective in one. The degree of brain atrophy on magnetic resonance imaging (MRI) reflected disease severity. Compared with females, males had lower levels of attained motor development and more severe cerebral atrophy on MRI. Conclusion: Our patients showed more severe global developmental delay than those in previous studies and had intractable epilepsy, likely because previous studies had lower numbers of males. Further studies are needed to investigate appropriate therapy for CDD, such as AED polytherapy or combination treatment involving ACTH, KD, and AEDs.
言語 en
内容記述
内容記述タイプ Other
内容記述 Brain and Development. 2021, 43(4), 505-514.
言語 en
DOI
識別子タイプ DOI
関連識別子 https://doi.org/10.1016/j.braindev.2020.12.006
権利
言語 en
権利情報 【○!C】 2020 Published by Elsevier B.V.
権利
言語 en
権利情報Resource https://creativecommons.org/licenses/by-nc-nd/4.0/
権利情報 Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International
学位名
言語 ja
学位名 博士(医学)
学位授与機関
学位授与機関識別子Scheme kakenhi
学位授与機関識別子 13101
言語 ja
学位授与機関名 新潟大学
言語 en
学位授与機関名 Niigata University
学位授与年月日
学位授与年月日 2021-03-23
学位授与番号
学位授与番号 甲第4839号
学位記番号
内容記述タイプ Other
内容記述 新大院博(医)第993号
言語 ja
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