PDF(Pubmed)
Abstract：
UNASSIGNED: GNAO1 variants have been found to be associated with epileptic encephalopathies, developmental delays (DDs), and movement disorders (MDs). Therapies for patients with GNAO1 variants vary. However, treatments for GNAO1-related diseases are still in their infancy. Previous reports suggest that few pharmacological treatments are effective for patients with GNAO1 variant-related MDs. Deep brain stimulation (DBS) treatment appears to be effective, however surgical procedures and equipment failures pose risks to the patients. Effectiveness for oxcarbazepine (OXC) in GNAO1 variant-related MDs is first reported in our study, and it expand the effective drugs for MD treatment.
UNASSIGNED: We report the case of a 5-year-old male patient with a MD, who suffered from hypotonia and refractory choreoathetosis. The patient was found to have a DD and an intellectual disability. A de-novo variant of the GNAO1 gene (NM_138736: exom6: c.709G>A [p. Glu237Lys]) was identified by whole exome sequencing (WES) when he was 8 months old. The patient visited our hospital at the age of 4 years and 3 months because of fever and recurrent convulsions. Electroencephalogram (EEG) results show abnormal spikes, and magnetic resonance imaging (MRI) showed the enlargement of the lateral ventricles. The administration of tiapride hydrochloride, phenobarbital, midazolam, and hormones had no effect. OXC treatment was then initiated. No MD behaviors, such as rigidity and twisting of the limbs and trunk, or chorea, were observed after 10 days OXC treatment. Eventually, incremental doses of OXC were effective, and our patient achieved good control of his MD.
UNASSIGNED: We are the first to demonstrate the role of OXC in alleviating MDs associated with GNAO1 mutations. This report provides a novel possibility for the clinical treatment of this rare disease. To manage MDs associated with GNAO1 mutations, we recommend that OXC treatment be attempted before invasive surgical therapy.
UNASSIGNED: We report the case of a 5-year-old male patient with a MD, who suffered from hypotonia and refractory choreoathetosis. The patient was found to have a DD and an intellectual disability. A de-novo variant of the GNAO1 gene (NM_138736: exom6: c.709G>A [p. Glu237Lys]) was identified by whole exome sequencing (WES) when he was 8 months old. The patient visited our hospital at the age of 4 years and 3 months because of fever and recurrent convulsions. Electroencephalogram (EEG) results show abnormal spikes, and magnetic resonance imaging (MRI) showed the enlargement of the lateral ventricles. The administration of tiapride hydrochloride, phenobarbital, midazolam, and hormones had no effect. OXC treatment was then initiated. No MD behaviors, such as rigidity and twisting of the limbs and trunk, or chorea, were observed after 10 days OXC treatment. Eventually, incremental doses of OXC were effective, and our patient achieved good control of his MD.
UNASSIGNED: We are the first to demonstrate the role of OXC in alleviating MDs associated with GNAO1 mutations. This report provides a novel possibility for the clinical treatment of this rare disease. To manage MDs associated with GNAO1 mutations, we recommend that OXC treatment be attempted before invasive surgical therapy.
摘要：
未经证实：已发现GNAO1变异与癫痫性脑病有关，发育迟缓(DDs)，运动障碍（MD）。GNAO1变体患者的治疗方法各不相同。然而,GNAO1相关疾病的治疗仍处于起步阶段。以前的报道表明，很少有药物治疗对GNAO1变异相关的MD患者有效。深部脑刺激（DBS）治疗似乎是有效的，然而，外科手术和设备故障会给患者带来风险。在我们的研究中首次报道了奥卡西平（OXC）在GNAO1变异相关MD中的有效性，扩大了治疗MD的有效药物。
未经证实：我们报告一例5岁男性患者，患有张力减退和难治性舞蹈症的人。患者被发现患有DD和智力障碍。GNAO1基因的从头变体（NM_138736：exom6：c.709G>A[p。Glu237Lys]）在他8个月大时通过全外显子组测序（WES）鉴定。患者因发烧和反复惊厥而在4岁零3个月时来我院就诊。脑电图（EEG）结果显示异常尖峰，磁共振成像（MRI）显示侧脑室扩大。盐酸硫必利的给药，苯巴比妥,咪达唑仑,荷尔蒙没有影响。然后开始OXC处理。没有MD行为，如四肢和躯干的僵硬和扭曲，或者舞蹈症,在OXC治疗10天后观察。最终,递增剂量的OXC是有效的，我们的病人取得了良好的控制他的MD。
UNASSIGNED：我们是第一个证明OXC在减轻与GNAO1突变相关的MD中的作用的人。该报告为这种罕见疾病的临床治疗提供了新的可能性。为了管理与GNAO1突变相关的MD，我们建议在进行侵入性手术治疗之前尝试OXC治疗.
未经证实：我们报告一例5岁男性患者，患有张力减退和难治性舞蹈症的人。患者被发现患有DD和智力障碍。GNAO1基因的从头变体（NM_138736：exom6：c.709G>A[p。Glu237Lys]）在他8个月大时通过全外显子组测序（WES）鉴定。患者因发烧和反复惊厥而在4岁零3个月时来我院就诊。脑电图（EEG）结果显示异常尖峰，磁共振成像（MRI）显示侧脑室扩大。盐酸硫必利的给药，苯巴比妥,咪达唑仑,荷尔蒙没有影响。然后开始OXC处理。没有MD行为，如四肢和躯干的僵硬和扭曲，或者舞蹈症,在OXC治疗10天后观察。最终,递增剂量的OXC是有效的，我们的病人取得了良好的控制他的MD。
UNASSIGNED：我们是第一个证明OXC在减轻与GNAO1突变相关的MD中的作用的人。该报告为这种罕见疾病的临床治疗提供了新的可能性。为了管理与GNAO1突变相关的MD，我们建议在进行侵入性手术治疗之前尝试OXC治疗.
