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.
■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。