TY  - BOOK
AU  - Cesaroni,Elisabetta
AU  -  Matricardi,Sara
AU  -  Cappanera,Silvia
AU  -  Marini,Carla
TI  - First reported case of an inherited PACS2 pathogenic variant with variable expression
PY  - 2022///.
							
N1  - 67
N2  - 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 pathogenic PACS2 missense variant, p.Glu209Lys, that was inherited from his mildly affected mother. We describe the first PACS2 pathogenic variant to be inherited, expanding the clinical spectrum, associated with a mild phenotype in the mother and a more severe phenotype in her son, in keeping with previously reported descriptions
UR  - https://shs.cairn.info/revue-epileptic-disorders-2022-3-page-572?lang=en&redirect-ssocas=7080
ER  -