epilepsy Archives - SCN2A Australia

Parent-reported sleep profile of children with early-life epilepsies

Post author:Kris Pierce
Post published:January 26, 2022
Post category:SCN2A Simplified
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Sleep problems are very common in children with early-life epilepsy.

Precision medicine approaches for infantile-onset developmental and epileptic encephalopathies

Post author:Kris Pierce
Post published:January 9, 2022
Post category:SCN2A Simplified
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In children presenting with DEEs, genetic diagnoses can be made in over 50% of cases and inform precision medicine approaches to treatment.

Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders

Post author:Kris Pierce
Post published:December 31, 2021
Post category:SCN2A Simplified
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Using computational analysis common symptoms for 5 phenotypes of SCN2A were found. The model also predicted gain & loss of function variants.

Natural history studies and clinical trial readiness for genetic developmental and epileptic encephalopathies

Post author:Kris Pierce
Post published:December 30, 2021
Post category:SCN2A Simplified
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Natural history studies are critical for clinical trial design & registration of new treatments for developmental epileptic encephalopathies.

SCN2A severe hypomorphic mutation decreases excitatory synaptic input and causes autism-associated behaviors

Post author:Kris Pierce
Post published:December 22, 2021
Post category:SCN2A Simplified
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This study showed a direct relationship between autism behaviour and SCN2A loss of function mutation in a mouse model.

Generation and basic characterization of a gene-trap knockout mouse model of SCN2A

Post author:Kris Pierce
Post published:December 8, 2021
Post category:SCN2A Simplified
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This study found behaviour abnormalities in SCN2A mouse models that can be used to assess the effectiveness of new treatments.

ASO for SCN2A gain of function mutation in mice

Post author:Kris Pierce
Post published:December 6, 2021
Post category:SCN2A Simplified
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Gene-based therapy using ASO-mediated mRNA was very effective in a mouse model of SCN2A.

Impact of genetic epilepsy on parents

Post author:Kris Pierce
Post published:October 1, 2021
Post category:Uncategorized
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Having a child with genetic epilepsy has a significant impact on parents. Health services need to recognise parent’s needs.

Genetic Epilepsy Team Australia (GETA) Family Conference 2021

Post author:David Cunnington
Post published:May 29, 2021
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Hear the latest on genetic epilepsy from world-leading experts at Genetic Epilepsy Family Conference, May 29th 2021.

Genetic Information

Post author:David Cunnington
Post published:May 3, 2021
Post category:Conference 2021
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Dr Emma Palmer discusses how to decipher your genetic reports – what should be included and what does it mean?

SCN2A Australia and Asia Pacific

4 days ago

NEW YEAR - NEW LOOKWe are currently booking in the first few episodes for 2022. What OR who would you like to hear from in 2022??#SCN2A #CureSCN2A #scn2aawaress #scn2ainsights #scn2ascience #research #raredisease ... See MoreSee Less

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SCN2A Australia and Asia Pacific

2 weeks ago

SCN2A INSIGHTS: Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disordersAuthors: Ingo Helbig et. al.Summary:For this study, the researchers collated data on 413 individuals with SCN2A-related disorders from publications on people with SCN2A between 2001 and 2019. For each of these individuals, details on clinical symptoms were coded in such a way that they could be digitised. This resulted in 10,860 symptoms across the 413 individuals. This data was then analysed using computer analysis to identify clusters of symptoms that mapped to distinct clinical presentations. The authors grouped individuals in to 5 broad clinical categories (phenotypes): DEE, autism spectrum disorder, benign familial neonatal-infantile seizures, other epilepsies and atypical presentations. They then mapped the 5 most common symptoms associated with each clinical category (shown in the table). Then using these symptoms, they tested how accurately these symptoms were at predicting clinical presentations and variant function. This approach allowed correctly predicting gain of function versus loss of function variants in 84% of cases. Outlining the common symptoms of the main clinical presentations of SCN2A, allows those managing people with SCN2A-related disorders to group patients in to particular sub-types. This is helpful, particularly with the development of precision-based treatments, which will benefit different sub-groups of people with SCN2A. However, this technique is not perfect, with only accurately classifying 84% of those with SCN2A-related disorders as gain versus loss of function. This study shows the strength of adding computational analysis to the data collected clinically such as in natural history studies. It also highlights that each type of study is needed to get the best results. Careful and accurate clinical assessment, paired with strategies to digitise that data for computational analysis to find patterns over and above what can be recognised even by experienced clinicians.Follow the link for more information! scn2aaustralia.org/helbig-2021/#SCN2A #scn2ainsights #scn2asimplified #CureSCN2A ... See MoreSee Less

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