Centres of Excellence

We are delighted to be able to share news about our Centres of Excellence. Royal Bristol Children’s Hospital has been announced as the first Centre in the UK. (More info to follow from CAP) It’s our aim to have a CDKL5 Nurse Specialist at each Centre. We believe this will offer the level of care and support our…

A-Z "A Journey of Emotions as a CDKL5 Family"

I recently had the pleasure in presenting this to families, clinicians and pharmaceutical companies at the 4th International CDKL5 Family Conference in Denver.  Many people ask me to post and send on, so in the spirit sharing it is below. Having a child diagnosed with CDKL5 is not something any of us has taken likely.  We…

CDKL5 variants

Improving our understanding of a rare neurological condition Update from Dr Ralph Hector I have a new paper out, published in Neurology Genetics, called “CDKL5 variants: Improving our understanding of a rare neurological condition.” This is a study of all the genetic variants we see in the CDKL5 gene, in both patients with CDKL5 deficiency…