Pioneering Epilepsy Service for Children - First in UK

The UK’s first genetic testing service to identify a complex form of childhood epilepsy has been set up at the Royal Hospital for Sick Children at Yorkhill in Glasgow thanks to a donation from The Muir Maxwell Trust which has purchased a dedicated DNA Sequencer machine for the hospital.

The machine is the only one of its type in the UK being used solely for the purpose of identifying mutations (changes) in the SCN1A gene in children affected by childhood epilepsy.  Yorkhill is the only hospital in the world where neurologists and geneticists work together to identify a mutation and go on to provide specific medical advice on appropriate therapy and treatment.

It has been proven that the SCN1A gene is responsible for a devastating form of childhood epilepsy that severely hinders a child’s development.  This is known as severe myoclonic epilepsy in infancy or ‘Dravet Syndrome’. Studies in the early 1990s suggested that 1 in 20,000* children might be affected by this condition however since the gene has been identified, Yorkhill believe the condition is likely to be much more common.

The syndrome develops gradually and often a child suffers years of uncontrolled seizures before a diagnosis is made. When the genetics lab identify an SCN1A gene mutation, doctors are able to make a much earlier diagnosis and use specific therapies to control seizures and halt progress of the condition; thereby greatly improving the quality of life of the children affected and in some cases, prevent learning disability and autism.

Dr Sameer Zuberi, Consultant Paediatric Neurologist at Yorkhill, said: “Being able to identify this gene at an early stage is critical to improving the quality of life of children with severe epilepsy as well as the lives of their families. 

“Dravet Syndrome is complex with devastating consequences and educating other doctors on what symptoms to look out for is crucial.  We owe a huge debt to The Muir Maxwell Trust for enabling us to provide this service. Without the partnership between the NHS and The Muir Maxwell Trust, many children with severe epilepsy in the UK would still be without a diagnosis and not be receiving the best possible treatment.”

Su Stenhouse, Head of Molecular Genetics at Yorkhill, said: “More than 50% of tests we have done so far have been on children under the age of five and out of the 315 DNA samples we have tested, we have identified the mutated gene in 101 of them.  This means over 100 children and their families have a real chance of living a better life.”

Ann Maxwell, co-founder of The Muir Maxwell Trust, said: “When Yorkhill Children’s Hospital in Glasgow approached us with a request for a DNA sequencer to diagnose Dravet Syndrome prior to the onset of severe brain damage, we didn’t hesitate to buy the machine. 

“Through the work being done at Yorkhill, a unique database is emerging and the groundbreaking results are being shared worldwide, helping children with this condition everywhere. The Muir Maxwell Trust is committed to funding projects that give practical support to children and their carers struggling to cope with the effects of severe epilepsy and this project far exceeds our expectations – the results are remarkable.”

Janet Gormley, has a son Damien 13, who suffers from Dravet Syndrome. He began having seizures in infancy and lost all his words at 3 years of age. Janet said: “After all these years of doing different tests to finally find out what was wrong was brilliant. I feel like we know which road we are on and what treatment to give. Since he started the new medicine his seizures are so much better, he is more alert, more vocal and he smiled for the first time in years. I even think he said something. ‘No!’”

* Yakoub et al 1992