Clinical and genetic features of GATOR1 complex-associated epilepsy.

Kaili YinXingxing LeiZhaofen YanYujiao YangQinqin DengQiang LuXue ZhangMengyang WangQing Liu

Published in: Journal of medical genetics (2023)

-LoF variants might show a high prevalence of focal seizures with a dynamic phenotype, indicating reduced penetrance and self-resolving features. The associated epilepsy was caused by loss of inhibition of the mTOR pathway. The pathogenicity of missense variants in GATOR1 genes should be cautiously evaluated.

Keyphrases

copy number
genome wide
temporal lobe epilepsy
cell proliferation
intellectual disability
dna methylation
escherichia coli
autism spectrum disorder
pseudomonas aeruginosa