Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies.

ABSTRACT:

Objective

We investigated the contribution to sporadic focal epilepsies (FE) of ultrarare variants in genes coding for the components of complexes regulating mechanistic Target Of Rapamycin (mTOR)complex 1 (mTORC1).

Methods

We collected genetic data of 121 Italian isolated FE cases and 512 controls by Whole Exome Sequencing (WES) and single-molecule Molecular Inversion Probes (smMIPs) targeting 10 genes of the GATOR1, GATOR2, and TSC complexes. We collapsed "qualifying" variants (ultrarare and predicted to be deleterious or loss of function) across the examined genes and sought to identify their enrichment in cases compared to controls.

Results

We found eight qualifying variants in cases and nine in controls, demonstrating enrichment in FE patients (P = 0.006;

SUBMITTER: Pippucci T 

PROVIDER: S-EPMC6414475 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature