Functional characterization of epilepsy-causing mutations
- Research Opportunity
- Honours, Master of Biomedical Science
- Number of Honour Places Available
- Medicine and Radiology
- Florey Institute of Neuroscience & Mental Health
Increasing number of genetic variants affecting ion channel genes and associated with different forms of epilepsy has been identified in the recent years. One of the important steps in understanding if and how these variants contribute to the disease phenotype is their functional characterization using different in vitro and in vivo approaches. The initial screen of detected variants is often performed in Xenopus laevis oocytes or HEK cells and involves site-directed mutagenesis, RNA production and injection, cell culture methods and two-microelectrode or patch clamp technique. In addition, biochemical methods and immunocytochemistry are applied to examine the expression and localization of affected channels. Positions is available for examining several novel mutations detected in the voltage-gated potassium channel genes and GABA receptors with the aim to examine the biophysical properties of mutated channels and mechanisms leading to the development of the disease.
Faculty Research Themes
School Research Themes
Honours, Master of Biomedical Science
Students who are interested in joining this project will need to consider their elegibility as well as other requirements before contacting the supervisor of this research
For further information about this research, please contact a supervisor.
Research NodeFlorey Institute of Neuroscience & Mental Health
MDHS Research library
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