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

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

Abstract

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

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

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