2020年12月9日 · GNAO1 encephalopathy is a rare neurodevelopmental disorder characterized by distinct movement presentations and early onset epileptic encephalopathy. Here, we report the in-depth phenotyping of genetically confirmed patients with GNAO1 encephalopathy, focusing on movement presentations.

2023年4月29日 · Complex hyperkinetic movement disorder (MD) characterizes 88% of GNAO1 patients. Severe hypotonia and prominent disturbance of postural control seem to be hallmarks in the early stages preceding the hyperkinetic MD. In a subgroup of patients, paroxysmal exacerbations became so severe as to require admission to intensive care units (ICU).

2023年11月9日 · GNAO1 -related disorder encompasses a broad phenotypic continuum that includes hyperkinetic movement disorders and/or epilepsy and is typically associated with developmental delay and intellectual disability.

Background: Mutations in GNAO1 typically result in neurodevelopmental disorders, including involuntary movements. They may be improved using calcium-channel modulators. Case: The patient visited our hospital at age 2 years because of moderate global developmental delay. Her intermittent, generalized involuntary movements started at age 8 years.

2016年3月11日 · We describe a child with a progressive movement disorder who had a de novo mutation identified in the guanine nucleotide‐binding protein, α‐activating activity polypeptide O ( GNAO1) gene using WES. The proband presented at age 5 years to the University of Virginia.

Results: Complex hyperkinetic movement disorder (MD) characterizes 88% of GNAO1 patients. Severe hypotonia and prominent disturbance of postural control seem to be hallmarks in the early stages preceding the hyperkinetic MD. In a subgroup of patients, paroxysmal exacerbations became so severe as to require admission to intensive care units (ICU).

GNAO1 -related neurodevelopmental disorder is a heterogeneous condition characterized by hypotonia, developmental delay, epilepsy, and movement disorder. This study aims to better understand the spectrum of epilepsy associated with GNAO1 variants and experience with anti-seizure medications, and to review published epilepsy phenotypes in GNAO1.

GNAO1 encodes Gα o, the α subunit of G o, a member of the G i/o family of heterotrimeric G protein signal transducers. G o is the most abundant membrane protein in the mammalian central nervous system and plays major roles in synaptic neurotransmission and neurodevelopment.

2023年5月25日 · 抑制性 G α（GNAI 或 Gαi）蛋白对于感觉毛细胞的极化形态发生和听力至关重要。 然而，它们实际贡献的程度和性质仍不清楚，因为之前的研究并未调查所有 GNAI 蛋白并包括非生理学方法。 百日咳毒素可以下调功能冗余的 GNAI1、GNAI2、GNAI3 和 GNAO 蛋白，但也可能诱发不相关的缺陷。 在这里，我们直接系统地确定了每个 GNAI 蛋白在小鼠听毛细胞中的作用。 GNAI2 和 GNAI3 在毛细胞顶端与其结合伙伴 GPSM2 发生类似极化，而 GNAI1 和 GNAO 未 …

350+ people are known to be impacted by a GNAO1 related neurodevelopmental disorder. The Bow Foundation supports GNAO1 families by raising awareness, enhancing research, and …