https://ogma.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:43460 SCN1A mutations that cause Dravet Syndrome (DS). DNA samples (n = 7) from DS patients previously shown to carry SCN1A mutations via Ion Torrent and Sanger sequencing were sequenced using the MinION. SCN1A amplicons for 8 exons were sequenced using the MinION with 1D chemistry on an R9.4 flow cell. All known missense mutations were detected in all samples showing 100 % concordance with results from other methods. However, the MinION failed to detect the insertions/deletions (INDELs) present in these patients. Nevertheless, these results indicate that MinION is a cost-effective platform for use as an initial screening step in the detection of nucleotide substitution mutations in in SCN1A, especially in under-resourced laboratories or hospitals. Further improvements are required to reliably detect INDELS in this gene.]]> Tue 20 Sep 2022 08:42:26 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:33760 50% seizure reduction, and a trend of better seizure freedom. Their tolerability would also be considered acceptable with the observed low withdrawal rate. However, the relative lack of well-conducted RCTs evaluating their effectiveness against other active AED treatment in children would not facilitate evidence-based practice. This highlights the knowledge gap and the need for more well-conducted RCTs against active treatments to ascertain the long term effectiveness and the role of newer AEDs in managing epilepsy in children.]]> Tue 03 Sep 2019 17:57:39 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:19475 Sat 24 Mar 2018 08:02:21 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:20987 QOLIE-10, whereas there were fewer predictors for HRQoL_EQ-5D or HRQoL_QWB-SA. Conclusions: QOLIE-10 appeared to be a reliable and sensitive instrument to assess the HRQoL for epilepsy patients. According to the MLR analyses, numbers of AEDs, refractory epilepsy, comorbidity depression, and cognitive function were demonstrated to be predictors of HRQoL dependent on different tools. Comparisons between the tools suggested epilepsy-specific instrument was more competent to discriminate HRQoL based on condition variables. However, a longitudinal study is still needed to examine the responsiveness of Chinese QOLIE-10.]]> Sat 24 Mar 2018 07:50:41 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:23416 Sat 24 Mar 2018 07:13:53 AEDT ]]>