The clarification of molecular pathology of alternating hemiplegia of childhood.

儿童交替性偏瘫（AHC）在生命早期出现异常眼动，在一岁半时出现阵发性偏瘫。此外，AHC的相关症状是癫痫和各种不自主运动。没有具体的检查结果和既定的治疗方法。对8例典型AHC患者进行外显子组测序以确定一个负责基因。结果，每个患者都携带一个杂合错义ATP1A3突变。这些突变在他们的父母身上没有发现。我们阐明了ATP1A3基因的新杂合错义突变是AHC的一个原因。此外，我们发现表型与E815K突变之间存在显著相关性。

Alternating hemiplegia of childhood (AHC) has an onset of an abnormal eye movement during the early years of life and paroxysmal hemiplegia in the first year and a half. In addition, AHC has associated symptoms that are epilepsy and a variety of involuntary movements. There are not specific examination findings and established treatments.Exome sequencing was performed for the 8 patients with typical AHC to identify a responsible gene. As a result, each patient harbored a heterozygous missense ATP1A3 mutation. These mutations were not found in their parents. We elucidated that a de novo heterozygous missense mutation in the ATP1A3 gene is a cause of AHC. In addition, we found out the significant correlation between phenotype and E815K mutation.