Method of detection of difficult Osamu characteristic epilepsy of newborn baby period - infant period emergence

摘要

The new method of detecting the difficult Osamu characteristic epilepsy which emerges in summary newborn baby period - infant period is disclosed. Whether or not as for method of this invention, being the method of doing vis-a-vis the sample which is separated from the organism, the shintakishin connection protein 1 (STXBP1) the gene has been deficient it designates as index whether or not and/or the gene which abnormal type STXBP1 the cord/code is done exists. According to this invention, diagnosis of decision of the said disease becomes possible, individual conversion reaching suitable conversion of the remedy which includes gene remedy is expected. Participation of the STXBP1 gene to the said disease is something which this invention reports for the first time.