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Research Portfolio


A new type of epilepsy syndrome starting in infancy


Grant round winners 2007

grant amount:

£79,997 over 22 months

lead investigator:

Dr Frances Platt



University of Oxford and St Georges’ Hospital Medical School, London


The Study

In 2004, a group of researchers at St George’s Hospital Medical School in London identified a gene mutation that causes a rare type of severe epilepsy starting in infancy, first studied in a big Amish family.

This gene is the blueprint for an enzyme called GM3 synthase, which is involved in making a family of molecules called gangliosides. Normally gangliosides form an important part of the membranes surrounding nerve cells in the brain. However if the gene encoding the enzyme is mutated, the enzyme isn’t present, ganglioside levels are low, and the membranes around nerve cells are faulty, causing epilepsy.

This is the only type of epilepsy so far discovered that is definitely caused by abnormal ganglioside levels in the brain. The important question is: are there any other types of epilepsy that are caused by abnormalities in ganglioside levels?

Dr Frances Platt and her colleagues at the University of Oxford and St Georges’ Hospital Medical School, London, have been awarded £79,997 over 22 months to investigate “Human GM3 synthase deficiency, a new severe epilepsy syndrome“. They will test blood samples from about 200 children who developed epilepsy in infancy to see if they have unusual ganglioside levels, and do gene scans if they find them.

The same team will also evaluate a new treatment for the Amish epilepsy syndrome, and also carry out gene scans in members of another large family from Oman who show an apparently similar type of inherited epilepsy. The collaborating team at the University of Oxford will develop a treatment for GM3 deficiency epilepsy from cells growing in their laboratory.

This project has also won £278,000 of support from
The Wellcome Trust

This is one of five grants made by the Epilepsy Research Foundation (now Epilepsy Research UK) in 2007. Read about the other grants from 2007 here