Rolandic Epilepsy Genomewide Association International Study

Study Overview
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Brief Summary
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We have discovered a small change in the genetic code which increases the risk of the brainwave abnormality that is found in rolandic epilepsy. We now wish to confirm this using a second much larger sample of patients. We will investigate the other genetic changes that cause people with the brainwave abnormality to develop seizures, as well as problems with speech, coordination, attention and learning.

Detailed Description
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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 25% of child patients have Rolandic Epilepsy or RE, also known as Benign Epilepsy with Centrotemporal Spikes (BECTS). RE has a complex genetic basis, probably made up of combinations of susceptibility variants in different genes. Children with RE quite often have other symptoms that affect their speech, attention, reading ability or coordination. The goal of this study is to find the genetic basis for susceptibility to seizures and associated comorbidities for RE using genomewide association approaches. We know that RE has a genetic basis and we recently discovered the genetic cause of the EEG pattern seen in RE. The goal of REGAIN is to now find the genetic basis for susceptibility to seizures and the associated symptoms above. Our hope is to be able to improve diagnosis and understand why each child with RE is different, and perhaps point us towards new treatments that are more effective and have fewer side effects. We will compare the genetic code of 3,000 children with RE against a similar number of people not affected by epilepsy. With the proposed large sample of participants, we will be able to pinpoint the exact changes that might lead to seizures or attention problems for example. Learning the genetic basis for these problems will deepen our understanding of the mechanisms and lead to new treatments or cures.

Official Title
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Rolandic Epilepsy Genomewide Association International Study

Conditions
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Rolandic Epilepsy

Intervention / Treatment
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* Other: Blood draw
* Other: Existing samples


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Diagnosis of Rolandic Epilepsy in accordance with the following international criteria: Age of first afebrile seizure 3-12 years Seizures comprising focal sensorimotor seizures affecting the vocal tract and face, with or without involvement of the arm Predominant sleep-related seizures EEG interictal centro-temporal spikes with normal background Current age 6-25 years Exclusion Criteria: No history of focal seizure Normal EEG or abnormal background features on EEG Known structural causes (stroke, tuberous sclerosis, infection, post-infectious or metabolic) Primary diagnosis of autism or global learning disability Focal central neurological deficit on clinical exam, Unable to provide informed consent Unable to provide blood sample

Ages Eligible for Study
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Minimum Age: 6 Years
Maximum Age: 25 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Patients diagnosed with RE<br>People who meet the eligibility requirements and have been diagnosed with rolandic epilepsy. | Other: Blood draw<br>* Participation includes one visit for one blood draw per recruited patient. 10-20ml peripheral venous blood will be taken from the antecubital fossa. The DNA from the blood sample will then be extracted and resequenced for analysis.<br>|
| Controls<br>People without a lifetime history of seizures. | Other: Existing samples<br>* Control DNA samples will be used that have been previously acquired in other studies.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Allelic association p value corrected for genome wide testing | We will look to see if there are changes in the genetic code that cause brainwave abnormalities close to the genetic changes that we have already discovered. | Day 1 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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RE, Epilepsy, Rolandic, Genetics, Genomewide Association Study, Neurology, Pediatrics