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6 September 2015

Woman with epilepsy speaks for first time in 15 years

Professor Sanjay Sisodiya, director of clinical genetics at Epilepsy Society has told how a patient of his spoke for the first time in 15 years after genetic diagnosis revealed she had a rare epilepsy syndrome which led to a change in medication.

The woman, then in her 50s,  was diagnosed with Dravet syndrome, a condition which usually begins in childhood and which is exacerbated by the anti-epileptic drug, carbamazepine.

‘We changed my patient to more appropriate drugs and, in her sixth decade, she began to speak again,’ Professor Sisodiya told a packed auditorium at the 31st International Epilepsy Congress in Istanbul. ‘Now I can’t get a word in edge ways. During clinic, her carer went to put a piece of paper in the bin and my patient asked her "Are you going for a fag?”

‘Not only does this show good communication skills but it shows wit. It illustrates the fact that even after a lifetime of severe epilepsy, it is possible to regain a degree of cognitive performance.’

Genetic response to treatment

Professor Sisodiya was talking at the congress about the importance of understanding the genetic factors that may influence a person’s response to treatments including epilepsy medication, dietary therapies and surgery. He also stressed the urgency in identifying genetic factors that might predict those who are at a high risk of SUDEP – sudden unexpected death in epilepsy.

‘Understanding how our genes affect our response to different treatments is a field of research that is lagging behind other areas,’ Professor Sisodiya continued.

‘This is an important area of research. While ever people are having seizures and living with the consequences of seizures, we still have a job to do.  We can and we should do better.

‘We know that there are  drugs that are effective in some people but not in others. For example we know that some people will do well on vigabatrin while it may cause reduced peripheral vision in others. We know that  valproate can be an effective drug for many but may pose a risk for women of childbearing years,  as the drug can cause problems in a developing baby.  But we cannot predict who will be affected.

Epilepsy surgery and the ketogenic diet

‘Similarly, epilepsy surgery and the ketogenic diet will result in seizure freedom for some but not others. We hope that genetics will help us to understand treatment response in all these areas. ‘

Professor Sisodiya said he also hoped genetics would lead to precision medicine with an exact medication for each person with epilepsy. ‘Genetics will inform individual treatment as part of an overall picture but will not be the only factor.’

He told the congress genetic research needed to be a world-wide collaboration, with no room for single centre studies. 

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