Biology of Juvenile Myoclonic Epilepsy
| Status: | Recruiting |
|---|---|
| Conditions: | Neurology |
| Therapuetic Areas: | Neurology |
| Healthy: | No |
| Age Range: | 10 - 40 |
| Updated: | 1/19/2018 |
| Start Date: | July 13, 2017 |
| End Date: | June 30, 2020 |
| Contact: | Professor Deb K Pal, MA MSc PhD MRCP |
| Email: | robert.mcdowall@kcl.ac.uk |
| Phone: | +44 (020) 7848 0608 |
The investigators are collecting genetic information through blood samples as well as
clinical and EEG data from over 1000 people with Juvenile Myoclonic Epilepsy (JME) across the
UK, Europe and North America. This study will draw on both existing and new samples from JME
patients. These will be compared to anonymised data from samples for 2000 controls. The goal
of this study is to find the genetic cause of JME. Finding the cause will help create better
treatments for JME, as well as improve patient outcomes by allowing us to detect it earlier.
clinical and EEG data from over 1000 people with Juvenile Myoclonic Epilepsy (JME) across the
UK, Europe and North America. This study will draw on both existing and new samples from JME
patients. These will be compared to anonymised data from samples for 2000 controls. The goal
of this study is to find the genetic cause of JME. Finding the cause will help create better
treatments for JME, as well as improve patient outcomes by allowing us to detect it earlier.
Epilepsy is a common neurological disorder affecting 1% of the population. There are over 30
types of epilepsy, some common, some rare. Most epilepsies arise in childhood and have a
genetic cause. Approximately 40% of patients have the common forms of Genetic Generalised
Epilepsy (GGE), and the commonest GGE is "Juvenile Myoclonic Epilepsy" or JME.
The goal of this study is to find the genetic cause for JME. The investigators will do this
by comparing the genetic code in JME patients with that in people who do not have epilepsy.
This study will use clues from their electroencephalograph or brainwave test that is used to
help diagnose epilepsy. Participants will provide a single blood sample, along with
permission to collect clinical data about their diagnosis and a copy of their clinical EEG.
There is no direct benefit or risk to the research participants but the results from this
study may help other people with epilepsy or brain impairments in the future.
There is overwhelming evidence that JME is caused by changes in genetic code. These changes
are likely to be found in more than just one gene and there may be more than one type of
change. In order to find these changes, this study will look at a large number of people with
JME and compare their genetic code with people who do not have epilepsy. Finding the causes
of JME will lead to better understanding of its cause, new treatments, and tailoring of
treatments according to a person's genetic make-up.
types of epilepsy, some common, some rare. Most epilepsies arise in childhood and have a
genetic cause. Approximately 40% of patients have the common forms of Genetic Generalised
Epilepsy (GGE), and the commonest GGE is "Juvenile Myoclonic Epilepsy" or JME.
The goal of this study is to find the genetic cause for JME. The investigators will do this
by comparing the genetic code in JME patients with that in people who do not have epilepsy.
This study will use clues from their electroencephalograph or brainwave test that is used to
help diagnose epilepsy. Participants will provide a single blood sample, along with
permission to collect clinical data about their diagnosis and a copy of their clinical EEG.
There is no direct benefit or risk to the research participants but the results from this
study may help other people with epilepsy or brain impairments in the future.
There is overwhelming evidence that JME is caused by changes in genetic code. These changes
are likely to be found in more than just one gene and there may be more than one type of
change. In order to find these changes, this study will look at a large number of people with
JME and compare their genetic code with people who do not have epilepsy. Finding the causes
of JME will lead to better understanding of its cause, new treatments, and tailoring of
treatments according to a person's genetic make-up.
Inclusion Criteria:
- Diagnosis of Juvenile Myoclonic Epilepsy in accordance with Consensus criteria
- Age of myoclonus onset 10-25 years
- Seizures comprising predominant or exclusive early morning myoclonus of upper
extremities
- EEG interictal generalized spikes and/or polyspike and waves with normal
background
- Current age 10-40 years
Exclusion Criteria:
- Myoclonus only associated with carbamazepine or lamotrigine therapy
- EEG showing predominant focal interictal epileptiform discharges or abnormal
background
- Any evidence of progressive or symptomatic myoclonus epilepsy or focal seizures
- Global learning disability
- Dysmorphic syndrome
- Unable to provide informed consent
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