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Updated: Jun 3, 2025

Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes
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小说KCNQ2 与可变的表型谱相关的变异,从具有听觉特征的到严重的发育和脑病变

Mariagrazia Talarico1, Radha Procopio2, Monica Gagliardi2

  • 1Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, 88100 Catanzaro, Italy.

International journal of molecular sciences
|January 11, 2025
PubMed
概括

致病性KCNQ2变体会导致一系列的,从新生儿发作到发育性和性脑病变 (DEE). 这项研究发现了新的KCNQ2变异,突出了极端的表型变异性和与听觉特征 (EAF) 的潜在联系.

关键词:
KCNQ2 的时间.发育性性脑病变 - 发育性性脑病变是一种.具有听觉特征的.新生儿发症 新生儿发症自限性家族性新生儿儿童.

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