A new type
of epilepsy syndrome starting in infancy
Grant round winners 2007
13 July 2007
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.
