We exist to improve the lives
of everyone affected by epilepsy

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

Institution

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 2017.

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

Interested?

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 2 comments or add yours

Comments

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.

Regards
Diane Wallace
Epilepsy Action Advice and Information Team

Submitted by Diane, Epilepsy... on

Contact Author

CAPTCHA
This question is for testing whether you are a human visitor and to prevent automated spam submissions.
By submitting this form, you accept the Mollom privacy policy.