Broadening the scope of multigene panel analysis for adult epilepsy patients.

ABSTRACT:

Objective

Epilepsy is a suitable target for gene panel sequencing because a considerable portion of epilepsy is now explained by genetic components, especially in syndromic cases. However, previous gene panel studies on epilepsy have mostly focused on pediatric patients.

Methods

We enrolled adult epilepsy patients meeting any of the following criteria: family history of epilepsy, seizure onset age ≤ 19 years, neuronal migration disorder, and seizure freedom not achieved by dual anti-seizure medications. We sequenced the exonic regions of 211 epilepsy genes in these patients. To confirm the pathogenicity of a novel MTOR truncating variant, we electroporated vectors with different MTOR variants into developing mouse brains.

Results

A total of 92 probands and 4 affected

SUBMITTER: Lee S 

PROVIDER: S-EPMC11296137 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature