PACS2-related EIDEE
Early infantile developmental and epileptic encephalopathy (EIDEE, OMIM #308350) is a rare and severe type of epilepsy that usually emerges within the first three months of life, with developmental impairments becoming more apparent over time. Seizures in neonates and infants occur at an estimated rate of 7 per 100,000 live births. EIDEE is characterized by frequent seizures, developmental delays, and brain abnormalities, though symptoms and disease progression can vary significantly. Many forms of EIDEE are caused by genetic mutations, and diagnosis can often be confirmed through genetic testing. More info
Pathogenic mechanism
PACS2-related EIDEE is a rare form of epilepsy caused by mutations in the PACS2 gene, which plays a key role in maintaining mitochondrial, endoplasmic reticulum, and lysosomal function. These mutations disrupt PACS2’s ability to regulate interactions between its cargo-binding regions and client proteins, potentially affecting cellular processes. Although the link between PACS2 mutations and seizures remains unclear, evidence suggests that PACS2 may influence ion channel regulation, leading to disruptions that contribute to epileptic activity.
Mouse Models
- PACS2(E209K)