ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation

Wang, JY; Zhou, P; Wang, J; Tang, B; Su, T; Liu, XR; Li, BM; Meng, H; Shi, YW; Yi, YH; He, N; Liao, WP

He, N; Liao, WP (reprint author), Guangzhou Med Univ, Inst Neurosci, Affiliated Hosp 2, Chang Gang Dong Rd 250, Guangzhou 510260, Guangdong, Peoples R China.; He, N; Liao, WP (reprint author), Guangzhou Med Univ, Dept Neurol, Affiliated Hosp 2, Chang Gang

NEUROGENETICS, 2018; 19 (1): 9

Abstract

ARHGEF9 resides on Xq11.1 and encodes collybistin, which is crucial in gephyrin clustering and GABA(A) receptor localization. ARHGEF9 mutations have b......

Full Text Link


Links

期刊讨论 | 中国SCI论文 | 期刊主页 | 投稿经验 | 杂志官网 | 投稿链接 | 作者需知 | PMC链接 | Pubmed全文检索