Finding out the genetic cause of Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy (JME) is a common form of epilepsy that usually starts in childhood or adolescence. It causes quick, jerky muscle twitches, especially in the arms soon after waking up. Doctors know that genetics play a major role in JME, but they want to identify the exact genes involved. This study, led by King’s College London, investigates the DNA of people with JME. Researchers will compare their genetic code and brainwave recordings (EEGs) with people who do not have epilepsy to spot important differences. Taking part is straightforward. It involves giving one blood sample and allowing researchers to look at your medical records and past EEG results. There are no new medications to take. While joining will not directly change your current treatment, it could help scientists design better, more tailored therapies for people with epilepsy in the future.
At a glance
What is this study about?
Epilepsy is a condition that affects the brain, causing recurring seizures. Around one in every hundred people in the UK has epilepsy. One of the most common types is Juvenile Myoclonic Epilepsy, often shortened to JME. People living with JME frequently experience sudden, brief muscle jerks (called myoclonus), particularly in the arms and shoulders shortly after waking up. It can also cause other kinds of seizures.
Doctors know that JME is strongly linked to genetics—the biological code we inherit from our parents. However, JME is rarely caused by just one single faulty gene. Instead, it is likely caused by a combination of subtle changes across several different genes. Unravelling these genetic patterns is essential to understanding why JME develops and why it affects different people in different ways.
In this study, researchers at King's College London are collecting DNA samples from a large group of people with JME. By studying their genes alongside their brainwave recordings (electroencephalograms, or EEGs), the team hopes to pinpoint the exact biological variations that cause the condition.
This research does not involve testing any new medicines, but it provides crucial building blocks for future care. Uncovering the genetic causes of JME could lead to new treatments and help doctors choose the most effective medicines for each person based on their unique genetic profile.
Key takeaways
- Aims to find the specific genetic causes of Juvenile Myoclonic Epilepsy (JME).
- Open to people aged 6 to 50 whose morning arm jerks started between the ages of 6 and 25.
- Requires only one blood sample and access to your medical records and past EEG scans.
- No new medicines to take and no changes to your current epilepsy care.
- Led by King's College London and scheduled to run until September 2026.
Who may be eligible?
You may be able to join this study if you are between 6 and 50 years old and have a confirmed diagnosis of Juvenile Myoclonic Epilepsy. Your muscle jerks must have first started between the ages of 6 and 25, and they should primarily affect your upper arms or shoulders, especially in the morning. You will also need to have had an EEG (brainwave scan) that shows typical patterns linked to generalised epilepsy.
This study is not suitable for everyone. You cannot take part if your muscle twitches only started as a side effect of certain medications, such as carbamazepine or lamotrigine. It is also not open to people whose seizures start in one specific, isolated area of the brain (known as focal seizures).
Additionally, people with progressive forms of myoclonic epilepsy, significant global learning disabilities, or certain rare genetic conditions that affect physical development cannot join. All participants, or their parents or guardians if they are young, must be able to understand the study and give informed consent.
Could this study suit you?
Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.
- I have a formal diagnosis of Juvenile Myoclonic Epilepsy (JME).
- I am currently between 6 and 50 years old.
- My muscle jerks first started when I was between 6 and 25 years old.
- I mostly get sudden muscle jerks in my arms or shoulders in the morning.
- I have had a brainwave scan (EEG) showing generalised epilepsy patterns.
- My muscle jerks are not just a side effect of epilepsy medicines like lamotrigine or carbamazepine.
What does participation involve?
Taking part in this study is simple and does not disrupt your day-to-day life or regular medical care. You will be asked to provide a single blood sample, which can often be collected during a routine hospital appointment. You will also give permission for the research team to review your relevant medical records and look at copies of your previous EEG brainwave tests. You do not need to take any new medicines, change your current prescriptions, or attend frequent follow-up clinic visits. The study is running until September 2026.
Potential risks and benefits
Locations (24)
- King's College HospitalUnverifiedLondon, England
- College of MedicineUnverifiedSwansea, Wales
- Cardiff UniversityUnverifiedCardiff, Wales
- The Newcastle upon Tyne Hospitals NHS Foundation TrustUnverifiedNewcastle upon Tyne, England
- Airedale NHS Foundation TrustUnverifiedKeighley, England
- Bradford Teaching Hospitals NHS Foundation TrustUnverifiedBradford, England
- University of Wales and Llandough Hospital NHS TrustUnverifiedCardiff, Wales
- Darent Valley HospitalUnverifiedDartford, England
- Guys and St Thomas' NHS Foundation TrustUnverifiedLondon, England
- Leeds Teaching Hospitals NHS TrustUnverifiedLeeds, England
- Queen Elizabeth University HospitalUnverifiedGlasgow, Scotland
- Charles UniversityUnverifiedPrague, Czech Republic
Common questions
Do I have to stop taking my regular epilepsy medicine?
No. You must continue taking all your prescribed epilepsy medicines exactly as instructed by your doctor.
Will taking part cure my epilepsy?
No. This is an observational genetic study rather than a treatment trial. It aims to help scientists understand the condition better to improve future care.
What will happen to my blood sample?
Your blood sample will be sent to a specialist research laboratory where scientists will extract your DNA and study it under strict confidentiality rules.
Will I need to travel for extra hospital appointments?
Usually no. The single blood sample can often be taken during your routine clinic visits, and the rest of the information comes from your existing medical notes.
Can children take part in this study?
Yes, children aged 6 and older can take part, provided they agree and their parents or legal guardians give written consent.
How to find out more
Holly Crudgington
Always speak to your GP or specialist before deciding to take part in a study.
Discussion
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