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Updated: Sep 10, 2025

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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Published on: June 6, 2025

492

焦点性エピレプシー患者における推定オリゴジェニック寄与因子としてのADAM23ハプロイン不全

Martin Krenn1, Karl-Heinz Nenning2, Susanne Aull-Watschinger1

  • 1Department of Neurology, Medical University of Vienna, Vienna, Austria; Comprehensive Center for Clinical Neurosciences & Mental Health, Medical University of Vienna, Vienna, Austria.

Seizure
|August 27, 2025
PubMed
まとめ

この研究では,薬剤耐性エピレプシーの患者でADAM23の希少な変異が発見され,ADAM23が他の遺伝子と共に,エピレプシーのリスクに寄与することを示唆しました.

キーワード:
アダム23エピレプシーエクソーム発作について

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