ATP1A2 variants and a novel lethal recognizable polymicrogyric syndrome


  • We confirm recent findings recognizing ATP1A2 biallelic loss-of-function variants as a cause of severe polymicrogyria with calcifications and demonstrate associated neuropathic findings.

Why this matters

    Progress in genomics has revealed new monogenic entities as origins of polymicrogyria alongside supposed environmental clastic vascular or infectious origins; our data should prompt geneticists to test for mutations in the ATP1A2 gene.