Neuropathology of genetically defined malformations of cortical development-A systematic literature review.

ABSTRACT:

Aims

Malformations of cortical development (MCD) include a heterogeneous spectrum of clinical, imaging, molecular and histopathological entities. While the understanding of genetic causes of MCD has improved with the availability of next-generation sequencing modalities, genotype-histopathological correlations remain limited. This is the first systematic review of molecular and neuropathological findings in patients with MCD to provide a comprehensive overview of the literature.

Methods

A systematic review was performed between November 2019 and February 2020. A MEDLINE search was conducted for 132 genes previously linked to MCD in order to identify studies reporting macroscopic and/or microscopic findings in patients with a confirmed genetic cause.

Results

Eighty-one

SUBMITTER: Brock S 

PROVIDER: S-EPMC8359484 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature