Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

ABSTRACT:

Importance

Focal cortical dysplasia (FCD), hemimegalencephaly, and megalencephaly constitute a spectrum of malformations of cortical development with shared neuropathologic features. These disorders are associated with significant childhood morbidity and mortality.

Objective

To identify the underlying molecular cause of FCD, hemimegalencephaly, and diffuse megalencephaly.

Design, setting, and participants

Patients with FCD, hemimegalencephaly, or megalencephaly (mean age, 11.7 years; range, 2-32 years) were recruited from Pediatric Hospital A. Meyer, the University of Hong Kong, and Seattle Children's Research Institute from June 2012 to June 2014. Whole-exome sequencing (WES) was performed on 8 children with FCD or hemimegalencephaly using standard-depth (50-60X) seq

SUBMITTER: Mirzaa GM 

PROVIDER: S-EPMC4979321 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature