期刊
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
卷 114, 期 10, 页码 2669-2674出版社
NATL ACAD SCIENCES
DOI: 10.1073/pnas.1614478114
关键词
seizure; juvenile; canine; photosensitivity; Ras
资金
- Academy of Finland [1268091]
- Sigrid Juselius Foundation
- Jane and Aatos Erkko Foundation
- ERCStG [260997]
- Biocentrum Helsinki
- Munich University Society
- Canine Health Foundation (CHF) [02248]
- Albert Heim Foundation [105]
- Canada Foundation for Innovation and Ontario Ministry of Research and Innovation [30953]
- Epilepsiatutkimussaatio
The clinical and electroencephalographic features of a canine generalized myoclonic epilepsy with photosensitivity and onset in young Rhodesian Ridgeback dogs (6 wk to 18 mo) are described. A fully penetrant recessive 4-bp deletion was identified in the DIRAS family GTPase 1 (DIRAS1) gene with an altered expression pattern of DIRAS1 protein in the affected brain. This neuronal DIRAS1 gene with a proposed role in cholinergic transmission provides not only a candidate for human myoclonic epilepsy but also insights into the disease etiology, while establishing a spontaneous model for future intervention studies and functional characterization.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据