3040 GABA-A encephalitis with excellent clinical outcome following immunotherapy

undergo telehealth assessments at baseline, 18 and 36 months and surveys to assess utility of and attitudes toward genomic testing.Whole genome sequencing will be performed through GP2 and genetic results returned to participants.Cost-effectiveness will be assessed.Results Approximately 2200 APGS participants are eligible for MonoPDAus based on onset age and family history.Recruitment from APGS to MonoPDAus will commence this year.Direct recruitment to the GP2 Monogenic Network has commenced (n = 50)sequencing data for these participants is undergoing variant filtration.Conclusion By offering the genetic sequencing capabilities of GP2 to a large Australian PD population, MonoPDAus promises to provide a comprehensive characterisation of monogenic PD.

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Publication Details

Published
2024-08-01
DOI
https://doi.org/10.1136/bmjno-2024-anzan.61
Primary Topic
Autoimmune Neurological Disorders and Treatments
Type
article
Field-Weighted Citation Impact
0.00
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article

3040 GABA-A encephalitis with excellent clinical outcome following immunotherapy

Allycia MacDonald, Merrilee Needham, Kevin O’Connor, Ben McGettigan et al.
Autoimmune Neurological Disorders and Treatments
article

3040 GABA-A encephalitis with excellent clinical outcome following immunotherapy

Allycia MacDonald, Merrilee Needham, Kevin O’Connor, Ben McGettigan, Jackson White, Anna Tierney
article en

Abstract

undergo telehealth assessments at baseline, 18 and 36 months and surveys to assess utility of and attitudes toward genomic testing.Whole genome sequencing will be performed through GP2 and genetic results returned to participants.Cost-effectiveness will be assessed.Results Approximately 2200 APGS participants are eligible for MonoPDAus based on onset age and family history.Recruitment from APGS to MonoPDAus will commence this year.Direct recruitment to the GP2 Monogenic Network has commenced (n = 50)sequencing data for these participants is undergoing variant filtration.Conclusion By offering the genetic sequencing capabilities of GP2 to a large Australian PD population, MonoPDAus promises to provide a comprehensive characterisation of monogenic PD.

Royal Perth Hospital (AU), Fiona Stanley Hospital (AU)
Openalex Percentile: Top 79%
Autoimmune Neurological Disorders and Treatments
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