Identification of novel causative genes for early-onset epileptic encephalopathies using HRM analysis and next-generation sequencer

2014 Fiscal Year Final Research Report

• Project/Area Number: 24591500
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Yamagata University
• Principal Investigator: KATO Mitsuhiro 山形大学, 医学部, 講師 (10292434)
• Co-Investigator(Kenkyū-buntansha): TAKAHASHI Nobuya 山形大学, 医学部, 医員 (20536958) ; KIKUCHI Takahiro 山形大学, 医学部, 医員 (00594300) ; NAKAMURA Kazuyuki 山形大学, 医学部, 医員 (20436215)
• Co-Investigator(Renkei-kenkyūsha): MATSUMOTO Naomichi 横浜市立大学, 医学(系)研究科(研究院), 教授 (80325638) ; SAITSU Hirotomo 横浜市立大学, 医学(系)研究科(研究院), 准教授 (40402838)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: てんかん / 大田原症候群 / 遺伝子解析 / KCNQ2 / SCN2A / SCN8A / イオンチャネル / 全エクソーム解析

Outline of Final Research Achievements

To clarify the genetic background of early-onset epileptic encephalopathies (EOEE), we performed high-resolution melting (HRM) analysis as a high-throughput mutation screening method and whole exome sequencing (WES) analysis using next-generation sequencer (NGS). We identified KCNQ2 mutations in 3 of 12 patients with Ohtahara syndrome, SCN2A mutations in 15 of 328 patients with EOEE, and SCN8A mutations in 7 patients with EOEE. A combination of HRM analysis and WES analysis using NGS can efficiently detect the genetic cause of EOEE.

Free Research Field

小児神経学