FGF12の病原性変異によるDEEの患者におけるイクタルアシストール:心臓機能のモニタリングを思い出させる
Johanne Piotrowski1, Élise Schaefer1, Michael Kuntz2
1Clinical Genetics Unit, Institut de Génétique Médicale D'alsace (IGMA), Strasbourg, France.
この研究は9歳の少年の 早期発症の epilepsyと syncopeの 珍しいケースを詳細に説明しています この状態はFGF12の遺伝子変異と関連しており,心臓のリズムに問題がある.
科学分野:
- 神経科学
- 心臓病科
- 遺伝学
背景:
- と昏睡には様々な原因がある.
- 発作時に起こる 希少だが深刻な合併症です
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