A new study has shed light on how mutation in a single gene can cause epilepsy in infants.
A new study has shed light on how mutation in a single gene can cause epilepsy in infants.
Infants are more prone to seizures because of the fast development of their brains, making their brain cells ‘excitable’. The rapid neuron growth in an infant’s brain makes new connections with other nerve cells, leading to disruption of normal brain activity and consequently epilepsy.Infants have protective mechanisms in their brains to control this excitability, but researchers at the Howard Florey Institute in Melbourne have uncovered that a single gene mutation prevents a specific ion channel from functioning correctly, thus causing excitability which results in epilepsy.
Lead author, Dr Steven Petrou said that he and his team knew the genetic mutation existed, but did not know its impact on brain function or that it may control excitability in infants’ brains.
“This 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 infant brain by waiting to fully ‘switch on’ only in the adult brain,” Dr Petrou said.
“The mutation accelerates this normally delayed development change, leaving the susceptible infant 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,” he added.
Dr Petrou further explained, “This highlights the complexity of the human brain and how disorders can develop if one single mechanism goes awry.”
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The study was recently published in Molecular and Cellular Neuroscience.
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