Dravet Syndrome UK

Dravet Syndrome UK is dedicated to funding medical research to improve the lives of those affected by Dravet Syndrome and other sodium channel epilepsies. Our 4 professional advisors will ensure that any research projects undertaken meet our aims and are appropriate to our cause.

We operate a specific ‘Medical Research Fund’ whereby 25% of all income goes directly into this fund.

Dravet Syndrome UK – Research Grant Award 2011

Genetic factors affecting mortality, cognitive function and causes of Dravet Syndrome.

Professor Sanjay Sisodiya in collaboration with Professor Helen Cross, Dr Elaine Hughes, Dr Sameer Zuberi, Rachael Ellis and Eleanor Reavey.

Dravet Syndrome UK are delighted to be funding this 18 month research project to the sum of £39,000.

By using exome sequencing the project aims to find answers to the following questions:

• What underlies early mortality in Dravet Syndrome?
• What causes cognitive impairment in Dravet Syndrome?
• What is the cause of Dravet Syndrome?

The researchers aim to determine whether, in addition to a possible known SCN1A mutations, other genetic factors exist that determine these patterns. They will be looing at 3 groups:

• Children with SCN1A related Dravet Syndrome who died before the age of 10 years due to SUDEP.
• Adults with SCN1A related Dravet Syndrome, who despite severe active epilepsy, have good cognitive function and longer lives.
• Individuals with Dravet Syndrome with no know mutation or deletion of SCN1A, and no known mutation of PCDH19, SLC2A1, CDKL5 or STXBP1.

This project shows true collaboration across neurology institutes and hospitals across the United Kingdom, as well as collaboration between paediatric and adult neurology services. DRAVET Syndrome UK are delighted that our 4 professional advisers have come together on this project showing their commitment and dedication to Dravet Syndrome in both children and Adults.

This grant was partly funded thanks to the overwhelming generosity of 2 of our families who tragically lost their precious children.

Louis Millhouse passed away at just 2 years old. Mum Kerry states ‘Louis was such a beaming ray of sunshine and lit up everyones life. He lived his life to the full and everyday was fill of joy and happiness. Despite his condition he exceeded all expectation and gave so much love in abundance. It is so important that more research is done to understand this extremely rare condition so that others may benefit in the future’.

Jemima Simmons

Jemima Simmons very sadly passed away in October 2010, the day before her 2nd Birthday. Olivia and James, Jemima’s Mum and Dad have said that ‘Jemima was a beaming, affectionate, mischievous little girl, who was full of beans and the joy of life. She has left us with memories that we will treasure forever. We and her big sister, Charlotte, miss her every single day. We are pleased that the money raised in her memory will be used to help other children and their families who suffer from Dravet Syndrome’.