Myoclonic epilepsy of infancy / Posted 3 years ago

Epileptic Encephalopathies Longitudinal Multicentre Omics

Epilepsies that seriously affect the normal development of cognition and behavior are termed “epileptic encephalopathies” (EEs). Landau-Kleffner syndrome (LKS), Continuous Spikes in Slow-Wave Sleep (CSWSS) and Benign Focal Epilepsy of Childhood with Status Epilepticus during Sleep (BFEC-SES) are EEs that affect children 3-9 years old. The cause of 80% of these EEs is unknown and the course of disease is highly variable. Some children respond to treatment with high dose steroids or benzodiazepine class of drugs; however, the response cannot be predicted ahead of time and some children suffer serious side effects or fail to respond to treatment. The purpose of this study is to find new causes for these EEs and to find markers in the blood that predict the course of disease and response to treatment. Hopefully the results will help us develop tests that accurately predict which treatments will work in patients BEFORE they are offered these drugs.

We are following the course of 100 patients with LKS, CSWSS or BFEC-SES across Europe from the time of diagnosis for up to 18 months to find blood biomarkers that can reveal clues of the cause or prediction of outcome.

  • Wales-Based Study Contact : Not recruiting in Wales
  • Principal Investigator : Professor Deb Pal

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