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New study into genetic problems and epilepsy in children

24 Oct 2007

New research has suggested why mutation in a single gene can cause epilepsy in children.

The new study, from the Howard Florey Institute,
suggests that children are more susceptible to seizures because their
brains are developing at a rapid rate, making their brain cells
'excitable'. Their neurons are growing and making new connections with
other nerve cells, which can disrupt normal brain activity and results
in epilepsy.

Children have protective mechanisms in
their brains to control this excitability, but now scientists have
uncovered that a single gene mutation prevents a specific ion channel
(present in membranes around the cells) from functioning correctly,
causing excitability which results in epilepsy.

Steven Petrou and his team were aware that this genetic mutation
existed, but did not know its impact on brain function or that it may
control excitability in childrens' brains.

According to Dr Petrou, potential new avenues of research may emerge from this study. He said:

discovery is helping us to understand how and why this form of
epilepsy, known as benign familial neonatal-infantile seizures, appears
in these infants.

"Interestingly, we also found that the
ion channel which carries the mutation is itself naturally protective
as it limits excitability in the child's brain by waiting to fully
‘switch on' only in the adult brain. The mutation accelerates this
normally delayed development change, leaving the susceptible child
brain with an overly excitable channel and epilepsy. If this switch to
a more excitable state occurs too early during brain development, it is
possible that epilepsy and other neurological disorders develop.

This research was recently published in the journal Molecular and Cellular Neuroscience.