Objective: The Prince of Wales Hospital (PWH) Real-world Analysis of People with Drug-Resistant Epilepsy (DRE) on PERampanel (WRAPPER) study assessed effectiveness and tolerability of adjunctive perampanel in people with DRE attending PWH.
Methods: This was a prospective single-center real-world observational study involving 70 people with DRE between July 2016 and June 2021. A post hoc analysis after the initial study period of 16 weeks assessed outcomes for an extended period up to 52 weeks.
Eur J Hum Genet
February 2017
Though dysfunction of neuromuscular junction (NMJ) is associated with congenital myasthenic syndrome (CMS), the proteins involved in neuromuscular transmission have not been completely identified. In this study, we aimed to identify a novel CMS gene in a consanguineous family with limb-girdle type CMS. Homozygosity mapping of the novel CMS gene was performed using high-density single-nucleotide polymorphism microarrays.
View Article and Find Full Text PDFObjectives: External counterpulsation (ECP) is a non-invasive method being investigated for ischaemic stroke. We aimed to explore predictors of good functional outcome for ECP-treated ischaemic stroke patients who completed a minimum of 10 sessions.
Methods: We analysed our ECP registry of ischaemic stroke patients with cerebral large artery stenosis who underwent ECP therapy at the Prince of Wales Hospital from 2004 to 2010.
Objectives: To determine the familial aggregation of narcolepsy from perspectives of clinical symptomatology, polysomnographic data, and human leukocyte antigen (HLA) typing.
Methods: This was a Family study at the University-affiliated hospital. The participants were narcolepsy probands and their first degree relatives, and, also, age and sex matched unrelated healthy controls.