Summary of the functional and phenotypic analysis of GABRA1 variants (IMAGE)
Caption
(A) Summary of the functional changes of GABRA1 missense variants re-analyzed using our new proposed criterion. (B) Distribution of loss-of-function (n = 42) and gain-of-function (n = 13) variants across subcellular domains of the GABAAR α1 subunit. (C) Prevalence of epileptic seizure attacks in patients carrying gain-of-function (purple) and loss-of-function (dark blue) GABRA1 variants. (D) Seizure onset ages in patients carrying gain-of-function (purple) and loss-of-function (dark blue) GABRA1 variants. (E) Prevalence of fever-induced seizure (febrile seizure) in patients with gain-of-function (purple) and loss-of-function (dark blue) GABRA1 variants. (F) Seizure outcomes in patients carrying gain-of-function (purple) and loss-of-function (dark blue) GABRA1 variants. (G) Prevalence of developmental delay in patients carrying gain-of-function (purple) and loss-of-function (dark blue) GABRA1 variants. (H) Prevalence of varying extents of cognitive impairment in patients carrying gain-of-function (gradient purple) and loss-of-function (gradient blue) GABRA1 variants. (I) Prevalence of movement disorders in patients with gain-of-function (purple) and loss-of-function (dark blue) GABRA1 variants.
Credit
Wenlin Chen, Yee Wah So, Catherine Wang, Yanwen Shen, Michelle Demos, Jun Mu, Tian Rui Zhang, Xiaobin Wu, Linda Huh, Yu Tian Wang, Lidong Liu
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CC BY-NC-ND