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


King’s College London

About the study

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 2018.

What will participants be asked to do?

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

Who can take part?

Any adult or child diagnosed with MAE.

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 Professor David Collier.

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


If you would like to find out more, please contact Dr Shan Tang.  By email to shan.tang@kcl.ac.uk or by phone on 0207 848 0608.

Comments: read the 3 comments or add yours


Is this research relevant for a child diagnosed with mae who isn't living in the U.K. or England? This research is very important and might help finding new ways of curing.

Submitted by josianne on

Dear Josianne
May we suggest you contact Dr Shan Tang who is conducting the research. He should be able to answer your question. You can contact him by email shan.tang@kcl.ac.uk or by phone on 0207 848 5195.

Diane Wallace
Epilepsy Action Advice and Information Team

Submitted by Diane, Epilepsy... on

Dr tang is a female doctor not a man

Submitted by Justine Knowlson on