病例报告：一种与低钾性周期性麻痹相关的新型突变。
Case report: A novel mutation associated with hypokalemic periodic paralysis.
作者信息
Nuzhnyi Evgenii P, Arestova Alina S, Rossokhin Alexey V, Protopopova Anna O, Abramycheva Nataliya Yu, Suponeva Natalia A, Illarioshkin Sergey N
机构信息
Research Center of Neurology, Moscow, Russia.
出版信息
Front Neurol. 2023 Sep 29;14:1267426. doi: 10.3389/fneur.2023.1267426. eCollection 2023.
BACKGROUND
Hypokalemic periodic paralysis (HypoKPP) is a rare neuromuscular genetic disorder causing recurrent episodes of flaccid paralysis. Most cases are associated with 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.
MATERIALS AND METHODS
We report a case of HypoKPP associated with previously unreported mutation in gene (p.R900M). Molecular modeling of Ca1.1 was applied to evaluate its pathogenicity.
RESULTS
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.
CONCLUSION
Novel mutation, associated with HypoKPP was identified. Monte-Carlo energy minimization of the Ca1.1 model supported the association of this mutation with this disease.
背景
低钾性周期性麻痹（HypoKPP）是一种罕见的神经肌肉遗传性疾病，可导致反复发作的弛缓性麻痹。大多数病例与基因突变有关，导致钙通道缺陷并随后损害肌肉功能。由于有明确的管理方法，早期诊断对于及时治疗和预防新发作至关重要。
材料与方法
我们报告了一例与基因中先前未报道的突变（p.R900M）相关的低钾性周期性麻痹病例。应用Ca1.1的分子建模来评估其致病性。
结果
作为一名发作间期转诊的患者，神经状态、实验室检查和神经生理学检查均无异常。分子建模预测p.R900M突变会影响钙通道的激活过程。
结论
鉴定出与低钾性周期性麻痹相关的新型基因突变。Ca1.1模型的蒙特卡罗能量最小化支持了该突变与这种疾病的关联。
Zotero 插件