Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?

ABSTRACT:

Objective

To alert about the wide margin of unpredictability that distribution of somatic MTOR mosaicism may have in the brain and the risk for independent epileptogenesis arising from the seemingly healthy contralateral hemisphere after complete removal of epileptogenic focal cortical dysplasia (FCD).

Methods

Clinical, EEG, MRI, histopathology, and molecular genetics in 2 patients (1 and 2) treated with focal resections and subsequent complete hemispherectomy for epileptogenic FCD due to somatic MTOR mutations. Autoptic brain study of bilateral asymmetric hemispheric dysplasia and identification of alternative allele fraction (AAF) rates for AKT1 (patient 3).

Results

The strongly hyperactivating p.Ser2215Phe (patient 1) and p.Leu1460Pro (patient

SUBMITTER: Guerrini R 

PROVIDER: S-EPMC7735020 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature