Clinical and genetic features of GATOR1 complex-associated epilepsy.

Kaili Yin,Xingxing Lei,Zhaofen Yan,Yujiao Yang,Qinqin Deng,Qiang Lu,Xue Zhang,Mengyang Wang,Qing Liu

Journal of medical genetics（2023）

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摘要

Patients carrying -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.

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epilepsy,genetics

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