Epileptic Encephalopathies (EE) are some of the most severe brain disorders, resulting in substantial cognitive, neurological and behavioural deficits, uncontrollable seizures, with severe comorbidities including in some cases, death. We have demonstrated that Whole Exome and Whole Genome Sequencing are highly effective tools for diagnosing EE, and discovering new disease genes.
Drs Cowley and Gayevskiy have partnered with clinicians Dr Elizabeth Emma Palmer, Dr Rani Sachdev, to study patients with undiagnosed EE. This work has characterised the role of ASNS (26318253) as an important EE gene. This work is supported by the OHMR, who funded a grant entitled ‘Severe infantile-onset epilepsy: Leveraging Genomic Sequencing to Identify Novel Genes Neurodevelopmental Pathways and to Determine Cost-effectiveness’ (CIs Tony Roscioli, Rani Sachdev, Edwin Kirk, Emma Palmer, Annie Bye, Deborah Schofield, Marcel Dinger, Mark Cowley and Michael Buckley).