First reported case of an inherited PACS2 pathogenic variant with variable expression

Abstract excerpt

Neonatal epilepsy, cerebellar dysgenesis and facial dysmorphisms may be associated with de novo PACS2 missense pathogenic variants (EIEE 66) (OMIM #618067). Here, we report a toddler boy with neonatal-onset seizures, developmental delay with hypotonia, facial dysmorphisms and prominence of the cisterna magna, mild inferior vermian and cerebellar hypoplasia. A nextgeneration epilepsy gene panel revealed a known...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cerebellum
• Share to Child
• Share to Developmental Disabilities