Welcome to CHD2 UK

Mutations and deletions on the CHD2 gene can lead to epileptic encephalopathy, characterised by frequent epileptic seizures, intellectual disability, autism and autistic behaviours.

The effect of de novo mutations on the CHD2 gene has only relatively recently been recognised, and only a few hundred cases at most have been identified worldwide. Around twenty of these are in the UK.

The CHD2 UK website is intended to bring together parents and relatives of people with CHD2, alongside medical professionals and researchers. It will provide support and information on a variety of associated matters.

Thank you for visiting and we hope you find it useful!

4 Comments

Thomas Isaac Posted on15:46 - 29 October 2025

Hello Roger, I’m Thomas Isaac from the U.S. and I have a daughter with CHD2. I found information online regarding a study done in the UK by Nestle and their product called K.Vita. It is a blend of medium chain triglycerides that when taken with a manageable low carb/sugar diet the patient has seizure reduction results similar to a full blown epilepsy Keto diet. It is currently only available in the UK and not the U.S. Are you aware of this more tolerable Keto diet? Below are links regarding the diet and study.

https://academic.oup.com/braincomms/article/3/4/fcab160/6325091?login=false

https://www.ucl.ac.uk/ion/news/2021/jul/new-dietary-treatment-epilepsy-well-tolerated-and-reduced-seizures

https://www.nestlehealthscience.co.uk/vitaflo/k-vita

Roger Winterbottom Posted on11:48 - 30 October 2025

I wasn’t aware of that but it looks very interesting. My son was successfully on the ketogenic diet for a number of years with a significant reduction in his seizures, but administering the diet can be very difficult. Anything that increases the palatability and reduces the workload while having similar effects could be of significant benefit to families.

kim Posted on16:52 - 11 November 2025

What about a CDH2 variant of insignificance, should this be looked into deeper? a teenager that started having focal seizures at 16, no delays or setbacks until seizures started . No other diagnosis

Kathryn Posted on11:57 - 12 November 2025

Kim,
If you are talking about a Variant of Uncertain Significance (VUS)? -then I would say Yes.
A DNA Methylation Episignature test is useful in cases where there is a Variant of Uncertain significance in CHD2 related disorders. The methylation test can establish whether the CHD2 variant is the cause of the symptoms or not, since CHD2- related disorders have a very strong methylation episignature.
Are you based in the U.K. as this is available on the NHS via The Centre for Genomic Medicine in Manchester – currently there is a long waiting list, but I would certainly recommend that you look into this further.
All the best, Kathryn

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