Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.

ABSTRACT:

Objective

To assess the prevalence of somatic MTOR mutations in focal cortical dysplasia (FCD) and of germline MTOR mutations in a broad range of epilepsies.

Methods

We collected 20 blood-brain paired samples from patients with FCD and searched for somatic variants using deep-targeted gene panel sequencing. Germline mutations in MTOR were assessed in a French research cohort of 93 probands with focal epilepsies and in a diagnostic Danish cohort of 245 patients with a broad range of epilepsies. Data sharing among collaborators allowed us to ascertain additional germline variants in MTOR.

Results

We detected recurrent somatic variants (p.Ser2215Phe, p.Ser2215Tyr, and p.Leu1460Pro) in the MTOR gene in 37% of participants with FCD II and

SUBMITTER: Moller RS 

PROVIDER: S-EPMC5089441 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature