Molecular mechanism of age-dependent epileptic encephalopathy and the development of its molecular chaperone treatment

在两个特发性Ohtahara综合征家族性病例中发现了ARX基因末端外显子的两个移码突变。这些突变破坏了激活其转录功能的无干基结构域，并被认为是一种功能获得突变，就像聚丙氨酸束的扩张突变一样。这些发现揭示了大田原综合征与West综合征之间关系的分子病理学，这是临床上假设的。

Two frameshift mutations in the terminal exon of the ARX gene were identified in two familial cases of idiopathic Ohtahara syndrome. The mutations demolish the aristaless domain, which activates its transcriptional function, and are supposed to be a gain-of-function mutation like an expansion mutation of the polyalanine tract. These findings revealed the molecular pathology of the relationship between Ohtahara syndrome and West syndrome, which was clinically assumed.