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. A de novo GNAO1 mutation, NM_020988.2:c.626G > A, (p.Arg209Cys), was identified by whole exome sequencing. At age 9 years, she experienced severe, intermittent involuntary movements, which led to rhabdomyolysis. She needed intensive care with administration of midazolam, dantrolene sodium hydrate, and plasma exchange. We started treating her with gabapentin (GBP), after which she recovered completely. At age 11 years, she developed continuous, generalized involuntary movements. This prompted us to increase the GBP dose, which again resolved the involuntary movements completely. CONCLUSION In the case of movement disorders associated with GNAO1 mutations, GBP treatment may be attempted before more invasive procedures are performed.

中文翻译：

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GNAO1 突变相关的严重不自主运动用加巴喷丁治疗

背景 GNAO1 中的突变通常会导致神经发育障碍，包括不自主运动。可以使用钙通道调节剂来改善它们。案例 患者在 2 岁时因中度全面发育迟缓来我院就诊。她的间歇性、全身性不自主运动始于 8 岁。通过全外显子组测序鉴定了一个 de novo GNAO1 突变，NM_020988.2:c.626G > A，（p.Arg209Cys）。9 岁时，她经历了严重的间歇性不自主运动，导致横纹肌溶解症。她需要重症监护，给予咪达唑仑、丹曲林钠水合物和血浆置换。我们开始用加巴喷丁 (GBP) 治疗她，之后她完全康复了。在 11 岁时，她出现了持续的、广泛的不自主运动。这促使我们增加 GBP 剂量，这再次完全解决了不自主运动。结论 在与 GNAO1 突变相关的运动障碍的情况下，可以在进行更多侵入性手术之前尝试 GBP 治疗。