ACTA2-Related Dysgyria: An Under-Recognized Malformation of Cortical Development.

ABSTRACT:

Background and purpose

Pathogenic variants in the ACTA2 gene cause a distinctive arterial phenotype that has recently been described to be associated with brain malformation. Our objective was to further characterize gyral abnormalities in patients with ACTA2 pathogenic variants as per the 2020 consensus recommendations for the definition and classification of malformations of cortical development.

Materials and methods

We performed a retrospective, multicentric review of patients with proved ACTA2 pathogenic variants, searching for the presence of malformations of cortical development. A consensus read was performed for all patients, and the type and location of cortical malformation were noted in each. The presence of the typical ACTA2 arterial

SUBMITTER: Subramanian S 

PROVIDER: S-EPMC8757559 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature