PIK-ing the right gene for polymicrogyria

Abstract

The notion that malformations of cortical development could have a genetic basis was regarded as almost ludicrous just 10 years ago. With the advent of the new genomic massively parallel sequencing technologies, the landscape has transformed. Now, genetic factors are considered first when searching for the cause of malformations of cortical development that have marked genetic and phenotypic heterogeneity. In The Lancet Neurology, Ghayda Mirzaa and colleagues2 essentially solve the genetic basis of the most common form of regional polymicrogyria—namely, bilateral perisylvian polymicrogyria (BPP).