Identifying how a debilitating speech and movement condition is linked to epilepsy
Around 60,000 children and young people under the age of 18 in the UK are estimated to have epilepsy. Drug treatments have unpleasant side effects and, sadly, one in four lives with epilepsy that is difficult to control with medication.
Children affected are often described as clumsy and this is usually blamed on drug side effects. But they may in fact be suffering from a related condition called episodic ataxia (EA). This causes attacks of dizziness, unsteadiness and slurred speech due to a faulty gene in cells in the brain that allows calcium to move in and out of the cells, rather like a channel.
In 2005, Dr Tracey Graves at the Institute of Neurology in London was awarded an Action Training Fellowship to investigate possible causes of epilepsy and EA. Dr Graves showed that one faulty gene can cause both epilepsy and EA. She also identified five new gene mutations in patients who have been diagnosed with both conditions.
Around 100 children and adults each year in the UK are now being tested for EA2 and altogether between 700 and 800 people have been screened so far. Diagnosis leads to more appropriate treatment and peace of mind for children living with these conditions and their families.
This research has also led to the development of tests for childhood episodic dystonia – a neurological disorder which includes involuntary movements and muscle contractions.