EXPLORING SOMATIC MUTATION IN FOCAL EPILEPSIES

Grant number: 1079058 | Funding period: 2015 - 2017

Completed

Abstract

Epilepsy is a common disease in the Australian population affecting 3 percent of individuals. It incurs lifelong medical, social and educational costs, and in some cases can be fatal. It is a large burden on public healthcare in Australia. Focal epilepsies are the most common type of seizure that arise from specific parts of the brain. This study has two aims and a future strategy relevant to gene discovery and clinical testing for focal epilepsy.

Related publications (2)

Sensitive quantitative detection of somatic mosaic mutation in "double cortex" syndrome

John A Damiano, Hongdo Do, Ezgi Ozturk, Rosemary Burgess, Renate Kalnins, Nigel C Jones, Alexander Dobrovic, Samuel F Berkovic, Michael S Hildebrand

2017-12-01

A targeted resequencing gene panel for focal epilepsy

Michael S Hildebrand, Candace T Myers, Gemma L Carvill, Brigid M Regan, John A Damiano, Saul A Mullen, Mark R Newton, Umesh Nair, Elena V Gazina, Carol J Milligan, Christopher A Reid, Steven Petrou, Ingrid E Scheffer, Samuel F Berkovic, Heather C Mefford

2016-04-26