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PACS2 syndrome | DEE66
Neonatal epilepsy, intellectual disability from mild to severe with or without autism, cerebellar dysgenesis - all caused by single point mutation in PACS2 gene, leading to Developmental and Epileptic Encephalopathy 66.
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PACS2 research
We foster and coordinate international and interdisciplinary collaboration to unravel the mysteries and find a treatment(s) for PACS2 syndrome. 10 projects are underway. Multiple cell lines and animal models are available.
Advocacy for patients' engagement in research
We strongly belive that contribution made by patient organizations to research on rare diseases is instrumental. We coordinate research for PACS2. We build community of families engaged in other ultra-rare diseases.
Quick links for
PACS2 families:
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