Rolandic Epilepsy Genomewide Association International Study (REGAIN)

Study ID: 37410
Short Title: Rolandic Epilepsy Genomewide Association International Study (REGAIN)
Organisation: University Hospital Southampton NHS Foundation Trust
Location: Southampton General Hospital
Condition: Epilepsy
Main Specialty: Neurological disorders
Expected End Date: 30/09/2020
Postcode: SO16 6YD
Contact Name: R&D department
Contact Email: R&
Active: Yes

Inclusion Criteria

(a) 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 (b) Current age 6-25 years

Exclusion Criteria

(a) No history of focal seizure (b) Normal EEG or abnormal background features on EEG (c) Known structural causes (stroke, tuberous sclerosis, infection, post-infectious or metabolic) (d) Primary diagnosis of autism or global learning disability (e) Focal central neurological deficit on clinical exam (f) Unable to provide informed consent (g) Unable to provide blood sample

Study summary:

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. The goal of this study is to find the genetic basis for susceptibility to seizures and associated comorbidities for RE using genomewide association approaches.

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