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Accelerating the pace of research to find a cure for CHD2-related epilepsy and autism.

Getting Tested

How to Get Diagnosed

Getting diagnosed for CHD2 typically involves a combination of genetic testing, a review of medical history, a physical examination, a neurological examination, imaging studies and EEGs to support the diagnosis and understand the effects of the mutation. A blood sample is taken for genetic analysis to confirm the presence of a CHD2 mutation. It is important to note that the diagnosis can only be confirmed through genetic testing.

A pathogenic variant in the CHD2 gene is identified by genetic testing.

More About Getting Diagnosed

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Raising Awareness

Register Your Loved One

CHD2-related disorders are rare but likely significantly under-diagnosed.
Register your case to help CCC better understand the number of cases and to help identify future clinical trial sites.

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Register Here

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Ongoing Studies

A number of researchers and pharmaceutical companies are either currently working on, or are considering working on or investing in, the development of drugs or precision therapies that may improve the lives of those living with CHD2, or that may even lead to a cure for this disorder.

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Facts About CHD2


How Common is CHD2?

CHD2 is a rare disease with less than 500 known cases world-wide. The numbers are changing daily.

How Is CHD2 Diagnosed?

A pathogenic variant in the CHD2 gene is identified by genetic testing.

Types of Seizures and Epilepsies Associated With CHD2

Tonic clonic seizures; myoclonic body jerks or involuntary muscle twitches; eyelid flutters/myoclonia; drop attacks; atonic-myoclonic-absence seizures; photosensitivity epilepsy; a rapid onset of multiple seizure types associated with generalized spike-waves on an EEG.

Common Non-Seizure Symptoms seen in CHD2

Intellectual disability (ID); Autism spectrum disorders (ASD); Developmental delays; Neuropsychiatric conditions; Low muscle tone; Other challenging behaviors such as aggression

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Being diagnosed with CHD2 is devastating and overwhelming. Learning to accept your diagnosis and live with the disease can be incredibly difficult. Our community was created to help aid this confusing state and help to bring peace of mind to individuals struggling with the disease.