CHD2  

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CHD2  

Summary 

  • 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.

 

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