University of South Australia researchers have discovered a new gene linked to progressive myoclonus epilepsy (PME), offering hope for improved future diagnosis and treatment.
PME affects hundreds of people across the globe and is a particularly severe form of epilepsy. As the condition develops, seizure frequency increases rapidly and those affected experience a decline in cognitive ability and involuntary muscle twitching.
Using revolutionary DNA sequencing technologies, the study identified a mutation in a potassium ion channel gene that is at the centre of most cases of PME.
Head of UniSA’s Epilepsy Research Program Associate Professor Leanne Dibbens said the study examined 84 PME patients to identify the mutation and a genetic diagnosis was reached for almost one-third of the patients.
The new mutation disrupts the function of a potassium channel, which affects signal transmission in the brain. The findings are significant and promising for future diagnosis and treatments because anti-epilepsy drugs that target similar ion channels have already been developed.
Our universities make discoveries that change the health and medical industry every day through their research. Let’s continue to keep it clever, Australia.
[img source] Heino Boekhout (CCA2.0) bit.ly/1BBOfkh