Ontology highlight
ABSTRACT:
SUBMITTER: Dazzo E
PROVIDER: S-EPMC5070869 | biostudies-literature | 2016 Oct
REPOSITORIES: biostudies-literature
Dazzo Emanuela E Leonardi Emanuela E Belluzzi Elisa E Malacrida Sandro S Vitiello Libero L Greggio Elisa E Tosatto Silvio C E SC Nobile Carlo C
PLoS genetics 20161019 10
Autosomal dominant lateral temporal epilepsy (ADTLE) is a focal epilepsy syndrome caused by mutations in the LGI1 gene, which encodes a secreted protein. Most ADLTE-causing mutations inhibit LGI1 protein secretion, and only a few secretion-positive missense mutations have been reported. Here we describe the effects of four disease-causing nonsynonymous LGI1 mutations, T380A, R407C, S473L, and R474Q, on protein secretion and extracellular interactions. Expression of LGI1 mutant proteins in cultur ...[more]