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Updated: May 11, 2026

A Behavioral Screen for Heat-Induced Seizures in Mouse Models of Epilepsy
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在MICAL-1中出现的一种新型致病变体导致具有听觉特征的

Paolo Bonanni1, Roberto Giorda2, Roberto Michelucci3

  • 1Epilepsy and Clinical Neurophysiology Unit, IRCCS E. Medea, Scientific Institute, Conegliano, Italy.

Epilepsia open
|April 24, 2024
PubMed
概括

在偶发性病例中发现了一种新的MICAL-1基因变异,这表明了功能获取机制. 这一发现强调了在非家族性有听觉特征 (FEAF) 病例中进行基因检测的重要性.

关键词:
MICAL-1 氧化还原酶的活性具有听觉特征的 (EAF)遗传学 遗传学 遗传学 是一个新型致病变体的新型致病变体.偶尔的患者患者偶尔的患者.

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