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Updated: Jan 8, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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在严重的儿童语言障碍中非典型的GNAO1变异:临床,遗传和分子洞察力

Yonika A Larasati1, Moritz Thiel2, Ainara Salazar-Villacorta3,4,5

  • 1Translational Research Center in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

Molecular autism
|December 12, 2025
PubMed
概括

在儿童中,GNAO1的遗传变异会导致严重的语言障碍和智力障碍 (ID),即使没有或运动问题. 补充剂可能是这些GNAO1相关疾病的潜在治疗方法.

关键词:
童年语音失调 (CAS) 的语言失调与G蛋白结合的受体 (GPCRs) 是一种一个GNAO1一个GNAO1澳门银河娱乐场 澳门银河娱乐场 澳门银河娱乐场严重的语言障碍 严重的语言障碍

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