- CHD2 (chromodomain-helicase-DNA-binding protein 2) helps control the switching on and off of genes essential for brain development.
- Changes in the CHD2 gene can either be de novo (new in the person with epilepsy and not inherited from a parent) or be inherited from a parent.
- Changes in CHD2 can cause developmental and epileptic encephalopathy (DEE), intellectual disability and Autism spectrum disorder (ASD).
- Epilepsy associated with the CHD2 gene usually begins during infancy and early childhood. Myoclonic seizures, myoclonic-atonic seizures and photosensitivity are common.
- Diagnosis for CHD2 epilepsy will require genetic testing.