Elucidation for genetic basis of infantile epileptic encephalopathy by using comprehensive genetic analysis

2015 Fiscal Year Final Research Report

• Project/Area Number: 25293085
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Partial Multi-year Fund
• Section: 一般
• Research Field: Human genetics
• Research Institution: Hamamatsu University School of Medicine (2015); Yokohama City University
• Principal Investigator: Saitsu Hirotomo 浜松医科大学, 医学部, 教授 (40402838)
• Co-Investigator(Renkei-kenkyūsha): KODERA HIROFUMI 横浜市立大学, 博士研究員 (70637884)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: 遺伝子変異 / てんかん性脳症 / エクソーム解析

Outline of Final Research Achievements

Target capture analysis against 35 or 50 epilepsy genes and whole exome sequencing was performed in 104 and 623 cases with infantile epileptic encephalopathy, respectively. We identified several new disease causing genes (GNAO1, SLC35A2, PIGA, COG2, KCNB1). With our analysis along with world-wide progress of genetics of infantile epileptic encephalopathy, approximately 45 % of cases could be genetically diagnosed.

Free Research Field

分子遺伝学