Polymicrogyria

This article uses direct referencing.

Polymicrogyria (also known as cobblestone lissencephaly) is a neurodevelopmental disorder with abnormal gyrification of the cerebral cortex: Instead of the few and large convolutions (gyri) typical for normal brain development, multiple small convolutions occur, in the result of which the brain surface appears pebbled. Further diagnostic criteria include white matter reduction, ventricular enlargement, and hypoplasia of the brainstem and cerebellum (Pabuşçu et al., 2002; Jansen and Andermann, 2005). At least two genes have been found to be associated with polymicrogyria -- GPR56 (Piao et al., 2004) and AHI1 gene, though the latter is only one aspect of a wider disorder, Joubert syndrome (Dixon-Salazar et al., 2004).