Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes

Shi, YW; Zhang, Q; Cai, KF; Poliquin, S; Shen, WZ; Winters, N; Yi, YH; Wang, J; Hu, NN; Macdonald, RL; Liao, WP; Kang, JQ

Kang, JQ (reprint author), Vanderbilt Univ, Med Ctr, Dept Neurol & Pharmacol, 465 21st Ave South, Nashville, TN 37232 USA.

BRAIN, 2019; 142 (): 3028

Abstract

GABRB3 is highly expressed early in the developing brain, and its encoded beta 3 subunit is critical for GABA(A) receptor assembly and trafficking as ......

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