Application of long-read sequencing technologies to investigate epilepsy-associated genes

应用长读长测序技术研究癫痫相关基因

• 批准号: 20K08164
• 负责人: MIZUGUCHI Takeshi
• 金额: $ 2.75万
• 依托单位: Yokohama City University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2020
• 资助国家: 日本
• 起止时间: 2020-04-01 至 2023-03-31
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-20K08164/
• 关键词: ロングリードシークエンサー; てんかん; Structural variant; リピート病; 遺伝要因; ゲノム構造変化; リピート伸長

项目成果

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.

具有智力障碍，行为障碍和癫痫病的主要神经发育障碍中CHD5中的错义和截断变体。

• DOI: 10.1007/s00439-021-02283-2
• 发表时间: 2021-07
• 期刊: Human genetics
• 影响因子: 5.3
• 作者: Parenti I;Lehalle D;Nava C;Torti E;Leitão E;Person R;Mizuguchi T;Matsumoto N;Kato M;Nakamura K;de Man SA;Cope H;Shashi V;Undiagnosed Diseases Network;Friedman J;Joset P;Steindl K;Rauch A;Muffels I;van Hasselt PM;Petit F;Smol T;Le Guyader G;Bilan F;Sorlin A;Vitobello A;Philippe C;van de Laar IMBH;van Slegtenhorst MA;Campeau PM;Au PYB;Nakashima M;Saitsu H;Yamamoto T;Nomura Y;Louie RJ;Lyons MJ;Dobson A;Plomp AS;Motazacker MM;Kaiser FJ;Timberlake AT;Fuchs SA;Depienne C;Mignot C
• 通讯作者: Mignot C

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

• DOI: 10.1186/s13073-022-01042-w
• 发表时间: 2022-04-26
• 期刊: Genome medicine
• 影响因子: 12.3

Monogenic causes of pigmentary mosaicism

• DOI: 10.1007/s00439-022-02437-w
• 发表时间: 2022-05
• 期刊: Human Genetics
• 影响因子: 5.3
• 作者: K. Saida;P. Chong;A. Yamaguchi;Naka Saito;Hajime Ikehara;E. Koshimizu;R. Miyata;A. Ishiko;Kazuyuki Nakamura;H. Ohnishi;K. Fujioka;T. Sakakibara;H. Asada;K. Ogawa;K. Kudo;Eri Ohashi;M. Kawai;Yuichi Abe;N. Tsuchida;Yuri Uchiyama;K. Hamanaka;A. Fujita;T. Mizuguchi;S. Miyatake;N. Miyake;Mitsuhiro Kato;R. Kira;N. Matsumoto

Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency

两个患有过氧化物酶体酰基辅酶A氧化酶缺陷的兄弟姐妹中出现新的ACOX1突变

• DOI: 10.1016/j.braindev.2020.10.011
• 发表时间: 2021
• 期刊: Brain and Development
• 影响因子: 1.7
• 作者: Morita Atsushi;Enokizono Takashi;Ohto Tatsuyuki;Tanaka Mai;Watanabe Shiena;Takada Yui;Iwama Kazuhiro;Mizuguchi Takeshi;Matsumoto Naomichi;Morita Masashi;Takashima Shigeo;Shimozawa Nobuyuki;Takada Hidetoshi
• 通讯作者: Takada Hidetoshi

KCNT1-positive epilepsy of infancy with migrating focal seizures successfully treated with nonnarcotic antitussive drugs after treatment failure with quinidine: A case report

奎尼丁治疗失败后，用非麻醉性镇咳药物成功治疗伴有迁移性局灶性癫痫发作的 KCNT1 阳性婴儿癫痫：病例报告

• DOI: 10.1016/j.braindev.2020.05.002
• 发表时间: 2020
• 期刊: Brain Dev
• 作者: Takase C;Shirai K;Matsumura Y;Watanabe T;Watanabe A;Hirasawa-Inoue A;Mizuguchi T;Matsumoto N;Sugai K and Hayashi M
• 通讯作者: Sugai K and Hayashi M