Primary organisation: University of Melbourne
Principal Investigator: Professor Ingrid Scheffer
Flagship requested: Brain malformations, Epileptic encephalopathy
Approval date: August 2020
Applicant’s project summary:
Epilepsies are debilitating and often prolonged conditions, with numerous comorbidities. There are over 300 known epilepsy disease genes with over a third of patients being drug-resistant. Increasingly, genetic diagnosis guides the choice of the most effective therapy, however in clinical practice access to genetic testing is limited at best. Australian Genomics Epilptic Encephalopathy Flagship focused on epileptic encephalopathies as the disease group for which genomic testing is expected to make the most impact. Finding the pathogenic mutations will have direct implications for clinical practice, such as decisions about potential epilepsy surgery, and counselling of family members. For those participants with epilepsy that did not receive a diagnosis from their Flagship’s primary analysis, this project will re-analyse their genomic data with alternative pipelines and will look more broadly at genes that could contribute to their condition.