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

Subramanian Subramanian Asthik Biswas César Augusto Pinheiro Ferreira Alves Sniya Valsa Sudhakar Karuna Shekdar Pradeep Krishnan Manohar M Shroff Ajay Taranath Filippo Arrigoni Kimberly A Aldinger Richard J Leventer William B Dobyns Kshitij Mankad

Published in: AJNR. American journal of neuroradiology (2021)

Dysgyria is common in patients with ACTA2 pathogenic variants, with a peri-Sylvian and frontal predominance, and was seen in all our patients who also had the typical ACTA2 arterial phenotype.

Keyphrases

copy number
functional connectivity
working memory
gene expression