Investigating the Genetic Basis of Myoclonic Astatic Epilepsy (Doose syndrome).

Why it matters?

Myoclonic astatic epilepsy (MAE), or Doose syndrome, is a rare severe childhood epilepsy associated with unspecific developmental problems. Many studies suggest a strong genetic basis for MAE. However, the actual genetic make up for MAE is unknown. The purpose of this study is to:

  • Find the genes influencing the genetics of MAE
  • Describe the developmental and behavioural problems in children with MAE
When will this study be recruiting?

We are recruiting now until February 2017.

What will participants be asked to do?

Participants diagnosed with MAE who live in the UK will be asked to donate a blood or saliva sample for genetic analysis. Children who live in London and the South East may be invited to take part in developmental and behavioural assessments. Family members may also be invited to take part in EEG studies and to donate a blood or saliva sample.

Who can take part?

Any adult or child diagnosed with MAE and relevant family members.

Who is conducting the research?

Dr. Shan Tang, Specialist Registrar in Paediatric Neurology at St. Thomas’ Hospital and Clinical Research Fellow at King’s College London. Dr. Tang will be working under the supervision of Professor Deb Pal and Dr Michael Simpson.

Who has reviewed this study?

This study is supported by the Medical Research Council. Ethics approval has been obtained by the Institute of Child Health/Great Ormond Street Research Ethics Committee

Interested?

If you would like to find out more, please contact Dr Shan Tang by email: shan.tang@kcl.ac.uk or by phone at 020 7848 0608.

Further information:

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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