Exploring novel genes causing epilepsy by next-generation sequencing analysis

2023 Fiscal Year Final Research Report

• Project/Area Number: 19K17307
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 52050:Embryonic medicine and pediatrics-related
• Research Institution: Aichi Medical University (2020-2023); Yokohama City University (2019)
• Principal Investigator: Azuma Yoshiteru 愛知医科大学, 医学部, 講師 (60628593)
• Project Period (FY): 2019-04-01 – 2024-03-31
• Keywords: 次世代シークエンス解析 / てんかん

Outline of Final Research Achievements

The objective of this study was to search for novel epilepsy genes using advanced methods such as next-generation sequencers. During the period, I have been charge of 76 cases of epilepsy and other neurological diseases using next-generation sequencing analysis. Of these, mutations were identified in the responsible genes previously reported in 26 cases, and copy number variations that were considered pathogenic were identified in 2 cases. The case with de novo missense mutation in a gene that have not been reported previously were registered in an international database for possible new responsible genes, and are being prepared for reporting together with cases from other institutions.

Free Research Field

小児科学

Academic Significance and Societal Importance of the Research Achievements

次世代シークエンサーを用いた遺伝学的解析を用いて、既報の遺伝子において過去に報告のない変異を含む病原性変異を同定し、さらに過去に病原性の報告のない遺伝子にde novo変異およびbi-allelicのrare variantのデータを蓄積することができた。また、これらの新たな知見の一部を報告し、学術的および社会的な意義をもたらすことができた。