Identifying germline and somatic mutations that cause brain malformations and epilepsy
- Research Opportunity
- Number of Honour Places Available
- Medicine and Radiology
- Austin Health
|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
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