基因产物：G蛋白亚单位α O1。

蛋白功能：编码异源三聚体鸟嘌呤核苷酸结合蛋白（G蛋白）的α亚单位，在中枢神经系统中高度表达，尤其在海马、纹状体及小脑中表达最多，能够水解GTP，并与特定的受体和效应分子相互作用。

相关疾病：发育性癫痫性脑病17型（AD）[1]（部分可表现为 West 综合征 （AD）[5]）；神经发育障碍伴不自主运动[2]。

相关临床研究：PubMed数据库（PMID: 23993195 (Am J Hum Genet. 2013) ；PMID:  25966631 (Europ. J. Hum. Genet. 2016) ；PMID:  27916449 (Brain Dev. 2017) ；PMID:  28357411 (Neurol Genet. 2017) ）

用药提醒：托吡酯、川芎嗪及DBS治疗对部分GNAO1基因突变导致的运动障碍有一定帮助[3-4]。 


参考文献

1. Nakamura, K., et al., De Novo mutations in GNAO1, encoding a Galphao subunit of heterotrimeric G proteins, cause epileptic encephalopathy. Am J Hum Genet, 2013. 93(3): p. 496-505.
2. Saitsu, H., et al., Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. Eur J Hum Genet, 2016. 24(1): p. 129-34.
3. Sakamoto, S., et al., A case of severe movement disorder with GNAO1 mutation responsive to topiramate. Brain Dev, 2017. 39(5): p. 439-443.
4. Danti, F.R., et al., GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome. Neurol Genet, 2017. 3(2): p. e143.
5. Muir, A.M., et al., Genetic heterogeneity in infantile spasms. Epilepsy Res, 2019. 156: p. 106181.