Better futures for young lives with epilepsy and associated conditions
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Epilepsy genomics in childhood: finding the causes, directing treatment

We do not know in most cases why people have epilepsy, or why people respond to drugs as they do. We think that our genes contribute to diseases we may have. We all have the same 30,000 genes, but they are small differences in each gene between people.

Looking at these small variations in the genes can tell us something about why people have certain diseases and how they respond to treatments - this includes epilepsy.

Aim

To look at the genes of children with epilepsy to see if this can tell us more about why they have epilepsy.

Outline plan

Collect DNA samples of children with mainly drug-resistant partial epilepsies and undertake genome analysis. This should provide important insights into childhood epilepsies, mechanisms of remission and progression, and new therapies.

Update

Collection of the genetic and clinical data from 299 children with epilepsy is complete. The data is currently being analysed to look for novel genetic changes, combinations of genetic changes and the overall burden of genetic variability to see if these factors predispose to epilepsy in childhood. There has been a case report published of a novel finding, and an overall manuscript is in preparation.

Investigators:

Antonietta Coppola, Helen Cross, Sanjay M. Sisodiya.

Cyber EssentialsFundraising RegulatorYoung Epilepsy is the operating name of The National Centre for Young People with Epilepsy (NCYPE).
Registered Charity number 311877 (England and Wales)

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