Elucidation of pathophysiology about BFNE and EIEE in KCNQ2

2020 Fiscal Year Final Research Report

• Project/Area Number: 17K10088
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Fukuoka University
• Principal Investigator: IHARA YUKIKO 福岡大学, 医学部, 助教 (80648874)
• Project Period (FY): 2017-04-01 – 2021-03-31
• Keywords: KCNQ2 / 新生児てんかん / てんかん / 発達性てんかん性脳症

Outline of Final Research Achievements

The subjects were heterozygous knock-in mice (Kcnq2 T274M, G290D) bearing the T274M or G290D mutation, respectively. We cannot consider the difference about EEG and effectiveness of antiepileptic drug. Although differences in spontaneous onset of convulsion and life span have already been reported for the T274M, G290D mutant mice in the EIEE case compared to the BFNE mutant mice (A306T, Y284C), no spontaneous convulsions were observed when we were engaged in passage and rearing. Further, although the fecundity of the mutant mice differed from that of the wild type, there were no obvious differences in the behavioral aspects or postnatal life expectancy.

Free Research Field

てんかん

Academic Significance and Societal Importance of the Research Achievements

てんかん性脳症は難治性てんかん、重篤な知的障害、運動発達障害を呈し予後不良のてんかん症候群である。多剤抗てんかん薬に抵抗性で、発作コントロールに難治し発達遅滞を合併する。複数の原因遺伝子の報告がされているが、その十分な機能解析、有効な治療法開発はなされていない。よって、その病態解明、治療法の開発には大きな意義があると考える。