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RESEARCH Scientists Identify A Issue 13, Summer 2015 RESEARCH Scientists identify a genetic cause for photosensitivity Photosensitive epilepsy, page 6 FAMILY How canine epilepsy could help us to understand more about human epilepsy Dogs and epilepsy, page 8 MEDICAL Is epilepsy affecting your sex life? Epilepsy, men and sex, page 15 www.epilepsysociety.org.uk EPILEPSY REVIEW Three billion has been a significant number this summer. First the spacecraft New Horizons travelled three billion miles to send back images from Pluto, the last unexplored major body in our solar system. The excitement of scientists at NASA rippled around the world. Closer to home, there were ripples of excitement on a smaller, but still significant scale, as research into the three billion bases that make up our DNA, shone a light on the genetics of epilepsy. While space exploration reveals the secrets It’s a jigsaw where we don’t even know of a world at the far edge of our solar system, how many pieces will be in the final picture. epilepsy research is beginning to reveal the Our research is ongoing and you can help us secrets deep within our DNA, secrets that are to shape the direction it will follow by taking slowly helping to identify the causes of epilepsy. part in our online research survey. When it Our researchers at Epilepsy Society have comes to epilepsy research we want to know made ground-breaking progress in three what is important to you, what you hope key areas associated with epilepsy: sudden we will achieve and how this could make unexpected death in epilepsy (SUDEP), a difference to your life. You can find out photosensitivity and the ketogenic diet. how to take part in the survey on page 23. Using the most advanced technology, our Research and exploration are full of researchers can look in minute detail at the surprises and one revelation that has caught genomes of people with epilepsy and begin NASA scientists off guard is news that Pluto to unravel the complex genetic architecture has a plasma tail caused by the planet's that contributes to the condition. This is atmosphere being stripped away by solar helping scientists begin to understand why winds. This edition of Epilepsy Review reveals some people could be at a higher risk of that epilepsy too can have a tail. Turn to SUDEP, why some people may be sensitive page 8 to read about canine epilepsy and to flashing lights and why some people how research into dogs with epilepsy with drug resistant epilepsy respond well – and tails – could contribute to a better to the ketogenic diet while others don’t. understanding of the condition in humans. Director of clinical genetics at Epilepsy Society, Professor Sanjay Sisodiya is quick to point out that these are all small steps. There are no absolute answers yet, but Nicola Swanborough pieces of the jigsaw are gradually emerging. Editor FRONT COVER Editor Nicola Swanborough Epilepsy Society Best friends: Tina Thompson Email [email protected] Chalfont St Peter, Bucks SL9 0RJ You can view more of Tina's work Telephone 01494 601 417 www.epilepsysociety.org.uk at www.epilepsysociety.org.uk/ To receive Epilepsy Review, email us at the Registered charity no 206186 artists-and-epilepsy address above, or see back cover A company limited by guarantee Registered number 492761 England Views expressed by contributors in this publication are not necessarily those of Epilepsy Society Designed by Ben Dugdale Design www.bendugdale.com Information may change after printing and is not Printed by Lefa Print a substitute for advice from your own doctors. www.lefaprint.com Epilepsy Society is not responsible for any actions Printed on chlorine free paper taken as a result of using this information from sustainable forests NEWS 3 AEDs RESEARCH Perampanel offers Breakthrough greater hope A new treatment option is offering in understanding hope of better seizure control and potential seizure freedom for people causes of SUDEP with drug-resistant generalised tonic clonic seizures (GTC). Perampanel, developed by Eisai and licensed in the UK in 2013 for the Scientists have made an important and a greater genetic understanding treatment of focal seizures, has now breakthrough in understanding the will help identify precision treatments, been approved for use in generalised causes of premature death in people as well as pinpointing the causes and seizures that affect both sides of the with epilepsy. risk factors associated with the condition. brain at once. Researchers, led by those from This study is the largest of its kind People with these seizures often fall Epilepsy Society and University College so far, analysing the sequences of resulting in potential physical injuries. London, have discovered that an 18 people who died of SUDEP, Frequent generalised tonic clonic seizures individual’s genetic make-up may 87 living people with epilepsy and can also increase a person’s risk of Sudden contribute to the risk of sudden 1,479 non-epilepsy disease controls. Unexpected Death in Epilepsy (SUDEP). unexpected death in epilepsy (SUDEP). Sanjay Sisodiya, director of clinical Until recently there have been SUDEP causes the death of 600 genetics at Epilepsy Society and limited medications licensed for these people each year in the UK. It is professor of neurology at University seizures. But now the European thought to be more likely in people College London said: ‘This discovery is Commission has granted marketing with frequent convulsive seizures, an important step in understanding the authorisation approval for perampanel, than in those with infrequent seizures. causes of sudden death in epilepsy. It for use as an add-on therapy for This latest breakthrough brings us gives the scientific community a further generalised tonic clonic seizures in a step closer to determining risk in hint at how the genetic make-up of a adults and adolescents over 12. individual people, with the eventual person with epilepsy might contribute Clinical data for the drug, was aim of preventing deaths through to the risk of this devastating outcome. presented at the European Academy personalised diagnosis and treatment. ‘As we look towards more accurate of Neurology in Berlin and showed: By analysing the genes of a person estimation of individual risk, more – 30.9 per cent of people taking with epilepsy, medical professionals personalised treatment and perhaps perampanel were free of may, in the future, be able to identify prevention of SUDEP in the future, we GTC seizures compared with the heightened risk of SUDEP in need to test our findings further and 12.3 per cent taking a placebo advance, contributing towards the would welcome further collaboration.’ – there was a greater reduction quest for prevention. This research was funded by Dravet in GTC seizures in those on Genetic sequencing is playing Syndrome UK with contributions from perampanel (76.5 per cent) an increasingly important role in other bodies. SUDEP can occur in any compared to those who took healthcare, as it may help patients epilepsy, but is more common in some, placebo (38.4 per cent) receive more tailored treatment for such as Dravet Syndrome, a severe – people treated with perampanel had their conditions. Epilepsy affects more form of childhood epilepsy. an improved quality of life compared than half a million people in the UK www.epilepsysociety.org.uk/sudep to those taking a placebo. Epilepsy app for healthcare professionals Epilepsy Society is launching will enable clinicians to access its new app for healthcare up-to-date information about professionals to help support them all aspects of epilepsy care and in treating and caring for people management at the click of with epilepsy. The Epilepsy Manual a button. It has the potential will be free to download and to have a real impact on the will provide instant access to lives of people with epilepsy.’ comprehensive information about The app will be available this epilepsy for non-specialists. summer on Android and iOS: Jenny Nightingale, epilepsy www.epilepsysociety.org.uk/ specialist nurse said: ‘This resource manual 4 NEWS GENETIC RESEARCH A&E GOVERNMENT Ketogenic diet Postcode lottery Backing genomics There is a wide disparity in the The world’s only minister for life treatment of people with epilepsy who sciences, George Freeman, has are taken to A&E following a seizure, underlined the Government’s a recent study reveals. NASH – the commitment to genomics and its National Audit of Seizure management support for centres of excellence in Hospitals – looked at the services that are promoting innovative and care available to people with healthcare across the UK. epilepsy and found considerable Genomics is the diagnosis and variability across the entire care path treatment of an individual by looking with the need for more organised at their DNA. This is being pioneered A new study has highlighted the and accessible care. in the treatment of epilepsy at importance of exploring further The study looked at over 4,500 Epilepsy Society’s Chalfont Centre genetic factors which may attendances in 154 emergency in Buckinghamshire. explain why some people with departments across the UK. Speaking in Westminster at the epilepsy respond to ketogenic Assessments were often found to be launch of the All Party Parliamentary diet therapies while others don’t. incomplete. Witness statements were Group for Life Sciences, the UK Ketogenic diet therapies only taken in 75 per cent of first seizure parliamentary under secretary of state switch the body’s energy fuels patients. In this same group, only for health said: ‘We must unlock the from glucose to ‘ketone bodies’. 55 per cent were referred to a power of genomics and data and This is particularly beneficial for neurologist or epilepsy specialist and bring them more quickly to patients.
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