Epilepsy and Autism spectrum disorder caused by a pathogenic variant in TNRC6B

MicroRNAs (miRNAs) are small non-coding RNAs transcribed from independent miRNA genes that regulate gene expression in normal and pathological cellular processes. The TNRC6B gene (trinucleotide repeat containing 6 B, *610740) encodes a protein required to mediate translational inhibition by miRNA-guided mRNA cleavage [1]. This protein is associated with the Argonaute (Ago) family of proteins in the cytoplasm of the RNA-induced silencing complex (RISC), which leads to translational repression or mRNA degradation [1].
Source: Seizure: European Journal of Epilepsy - Category: Neurology Authors: Source Type: research