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 was to:
- Find the genes influencing the genetics of MAE
- Describe the developmental and behavioural problems in children with MAE
When did this study recruit?
We recruited until February 2017.
What were participants asked to do?
Participants diagnosed with MAE who live in the UK were asked to donate a blood or saliva sample for genetic analysis. Children who live in London and the South East were invited to take part in developmental and behavioural assessments. Family members were also invited to take part in EEG studies and to donate a blood or saliva sample.
Who took part?
Any adult or child diagnosed with MAE and relevant family members.
Who conducted 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 worked 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
This research study has now closed.
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.
Childhoodepilepsy.org has a wide range of research publications, and supporting information documents, for parents of children affected by epilepsy, clinicians and research professionals.