Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/33197
Title: Postmortem Genetic Testing in Sudden Unexpected Death in Epilepsy.
Austin Authors: Bagnall, Richard D;Perucca, Piero 
Affiliation: Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, University of Sydney, Sydney, NSW, Australia.
Epilepsy Research Centre
Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
7Department of Neurology, The Royal Melbourne Hospital, Melbourne, VIC, Australia.
Issue Date: Aug-2023
Date: 2023
Publication information: Epileptic disorders : International Epilepsy Journal with Videotape 2023-08; 25(4)
Abstract: A 24-year-old man with non-lesional bi-temporal lobe epilepsy since age 16 years was found dead in bed around midday. He was last seen the previous night when he was witnessed to have a tonic-clonic seizure. Before his death, he was experiencing weekly focal impaired awareness seizures and up to two focal-to-bilateral tonic-clonic seizures each year. He had trialled several antiseizure medications and was on levetiracetam 1500 mg/day, lamotrigine 400 mg/day, and clobazam 10 mg/day at the time of death. Other than epilepsy, his medical history was unremarkable. Of note, he had an older brother with a history of febrile seizures and a paternal first cousin with epilepsy. No cause of death was identified following a comprehensive postmortem investigation. The coroner classified the death as 'sudden unexpected death in epilepsy' (SUDEP), and it would qualify as 'definite SUDEP' using the current definitions.1 This left the family with many questions unanswered; in particular, they wish to know what caused the death and whether it could happen to other family members. Could postmortem genetic testing identify a cause of death, provide closure to the family, and facilitate cascade genetic testing of first-degree family members who may be at risk of sudden death? While grieving family members struggle with uncertainty about the cause of death, we as clinicians also face similar uncertainties about genetic contributions to SUDEP, especially when the literature is sparse, and the utility of genetic testing is still being worked out. We aim to shed some light on this topic, highlighting areas where data is emerging but also areas where uncertainty remains, keeping our case in mind as we examine this clinically important area.
URI: https://ahro.austin.org.au/austinjspui/handle/1/33197
DOI: 10.1002/epd2.20090
ORCID: 0000-0002-2476-9864
0000-0002-7855-7066
Journal: Epileptic disorders : International Epilepsy Journal with Videotape
PubMed URL: 37340991
ISSN: 1950-6945
Type: Journal Article
Appears in Collections:Journal articles

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