Myoclonic Astatic Epilepsy

Why it matters?

Approximately 25% of children with epilepsy have “Rolandic Epilepsy” or RE, also known as Benign Epilepsy with Centrotemporal Spikes (BECTS). RE is diagnosed with the help of an electroencephalograph (EEG) or brainwave test. Children with RE quite often have other symptoms that affect their speech, attention, reading ability or coordination.

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.

What we are doing?

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.

When will this study be recruiting?

This study is under review by the Ethics committee in the UK and we hope it will be open for recruitment by February 2018.

What will participants be asked to do?

Participants recruited in hospital will undergo a single blood test and complete a Questionnaire either electronically or in paper form. Self-referred participants will provide a saliva sample by post and complete a secure electronic consent form and questionnaire.

Who can take part?

Anyone aged from 6-25 years who has been diagnosed currently or in the past with Rolandic Epilepsy and has had an EEG that supports this diagnosis.

Who is conducting the research?

Professor Deb Pal at King’s College London is the Chief Investigator of this study along with co-investigator Dr Lisa Strug at University of Toronto.

Who has reviewed this study?

This study is supported by the Waterloo Foundation and is under review by the Health Research Authority (HRA) and Research Ethics Committee.

About our research

We are a research group from King’s College London dedicated to finding the cause of childhood epilepsies. Our research explores the genetics of childhood epilepsy in order to improve the outlook for both diagnosis and treatment.

Publications

Childhoodepilepsy.org has a wide range of research publications, and supporting information documents, for parents of children affected by epilepsy, clinicians and research professionals.

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Neuroimaging and Cognition in Rolandic Epilepsy (CREME)

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Epileptic Encephalopathies Longitudinal Multicentre Omics (DESIRE-ELMO)

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Myoclonic Astatic Epilepsy Study

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Biology of Juvenile Myoclonic Epilepsy (BIOJUME)

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Functional Analysis and Rescue of Epilepsy-Associated GRIN2A Mutations

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Rolandic Epilepsy Genomewide Association International Study (REGAIN)

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Changing Agendas on Sleep, Treatment and Learning in Childhood Epilepsy (CASTLE)

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