PACS2 pathogenic variant associated with malformation of cortical development and epilepsy

Abstract

PACS2 pathogenic variants are associated with an autosomal dominant syndrome (OMIM DEE66), associating developmental and epileptic encephalopathy, facial dysmorphism and cerebellar dysgenesis. However, no malformation of cortical development has been reported yet. We report here a seven‐year‐old child with a history of infantile epileptic spasm syndrome and a right insular polymicrogyria and pachygyria due to de novo PACS2 recurrent mutation c.625G>A (p.Glu209Lys). Our observation raises the question of the role of PACS2 in the cortical development. It also reminds the importance of cerebellar anomalies in the recognition of PACS‐related DEE.