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

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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.