Identifying germline and somatic mutations that cause brain malformations and epilepsy
- Research Opportunity
- Number of Honour Places Available
- Medicine and Radiology
- Austin Health
|A/Professor Michael Hildebrandemail@example.com||Personal web page|
Investigation of germ-line and somatic (brain-only) mutations in specific epilepsy syndromes associated with brain malformations has revealed novel and unexpected biological pathways, and provided important diagnostic and counselling information for patients and their families. A remarkable example is hemimegalencephaly - enlargement and malformation of an entire cerebral hemisphere leading to severe epilepsy - recently found in some cases to be due to "two-hit" germ-line and somatic mutations in genes (e.g. TSC2) of the phosphoinositide 3-kinase (PI3K)–AKT3-mTOR pathway by exome sequencing. Here we will apply a similar strategy to identify germline and somatic mutations in new genes causing hypothalamic hamartoma (HH) and gelastic epilepsy, a well-recognized epileptic encephalopathy of early life characterized by frequent and damaging tonic and atonic seizures (“crash helmet epilepsy”), cognitive decline and behavioural abnormalities. Although HH is a rare cause of epileptic encephalopathy, it is a particularly attractive "human model" to provide singular insights into the pathophysiology of this devastating and important group of childhood disorders
Faculty Research Themes
School Research Themes
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 Group / Unit / Centre
Research NodeAustin Health
MDHS Research library
Explore by researcher, school, project or topic.