PDF(Pubmed)
Abstract：
UNASSIGNED: Hypokalemic periodic paralysis (HypoKPP) is a rare neuromuscular genetic disorder causing recurrent episodes of flaccid paralysis. Most cases are associated with CACNA1S mutation, causing defect of calcium channel and subsequent impairment of muscle functions. Due to defined management approaches early diagnosis is crucial for promptly treatment and prevention new attacks.
UNASSIGNED: We report a case of HypoKPP associated with previously unreported mutation in CACNA1S gene (p.R900M). Molecular modeling of CaV1.1 was applied to evaluate its pathogenicity.
UNASSIGNED: As a patient referred between attacks neurological status, laboratory and neurophysiological examination were unremarkable. Molecular modeling predicted that the p.R900M mutation affects the process of calcium channels activation.
UNASSIGNED: Novel CACNA1S mutation, associated with HypoKPP was identified. Monte-Carlo energy minimization of the CaV1.1 model supported the association of this mutation with this disease.
UNASSIGNED: We report a case of HypoKPP associated with previously unreported mutation in CACNA1S gene (p.R900M). Molecular modeling of CaV1.1 was applied to evaluate its pathogenicity.
UNASSIGNED: As a patient referred between attacks neurological status, laboratory and neurophysiological examination were unremarkable. Molecular modeling predicted that the p.R900M mutation affects the process of calcium channels activation.
UNASSIGNED: Novel CACNA1S mutation, associated with HypoKPP was identified. Monte-Carlo energy minimization of the CaV1.1 model supported the association of this mutation with this disease.
摘要：
■低钾性周期性麻痹（HypoKPP）是一种罕见的神经肌肉遗传疾病，可引起弛缓性麻痹的反复发作。大多数病例与CACNA1S突变有关，导致钙通道缺陷和随后的肌肉功能损害。由于明确的管理方法，早期诊断对于及时治疗和预防新的发作至关重要。
■我们报告了一例与以前未报告的CACNA1S基因突变相关的HypoKPP（p。R900M)。应用CaV1.1的分子模型评价其致病性。
■作为患者在发作之间转诊的神经系统状况，实验室和神经生理学检查无明显变化。分子模型预测p.R900M突变影响钙通道激活的过程。
■新型CACNA1S突变，与HypoKPP相关。CaV1.1模型的蒙特卡罗能量最小化支持该突变与该疾病的关联。
■我们报告了一例与以前未报告的CACNA1S基因突变相关的HypoKPP（p。R900M)。应用CaV1.1的分子模型评价其致病性。
■作为患者在发作之间转诊的神经系统状况，实验室和神经生理学检查无明显变化。分子模型预测p.R900M突变影响钙通道激活的过程。
■新型CACNA1S突变，与HypoKPP相关。CaV1.1模型的蒙特卡罗能量最小化支持该突变与该疾病的关联。
