Florey Institute of Neuroscience and Mental Health

Correlation of polygenic risk score and clinical phenotype in patients with genetic generalized epilepsy

Abstract Objective The polygenic risk score (PRS) for individuals with genetic generalized epilepsy (GGE) quantifies the common risk variants in genes identified in genome‐wide association studies. We hypothesized that the phenotype of GGE patients differs based on their GGE PRS....

Efficacy and safety of fenfluramine in Dravet syndrome: The impact of patient clinical characteristics

Abstract Objective To assess the efficacy and safety of fenfluramine in patients with Dravet syndrome (DS) stratified by age, number of previously attempted antiseizure medications (ASMs), and SCN1A pathogenic variant status. Methods In this post hoc analysis, data from three ran...

Beyond the protocol: navigating ethics and governance in the multicentre implementation trials – the QASC Australasia and T3 Trials

OBJECTIVE: To describe and compare ethics and governance approval timelines for the Quality in Acute Stroke Care (QASC) Australasia Trial (2021-present) and Triage, Treatment, and Transfer of Patients with Stroke in Emergency Departments (T3) Trial (2012-2014), benchmarking again...

Aphasia treatment research: a decision-making tool to guide the design of phased trials from the Collaboration of Aphasia Trialists (CATs) trials for aphasia panel

Background Systematic reviews of randomised controlled trials with meta-analyses indicate that speech and language therapy for aphasia after stroke is effective in improving communication. However, high-quality evidence to identify an intervention’s target population (who), regim...

Associations between metabolic dysfunction–associated steatotic liver disease and physical and mental health–related quality of life in older adults

Metabolic dysfunction–associated steatotic liver disease (MASLD) is a common, often overlooked liver condition. Its impact on quality-of-life in older adults is not well understood. We examined the association between MASLD and physical and mental quality of life in a well-charac...

Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE): genetics, mechanisms and precision therapy

Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is a recently defined malformation of cortical development that is an important cause of childhood-onset drug-resistant epilepsy. Clinically, the epilepsies associated with MOGHE are h...