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dc.contributor.authorBagnall, Richard D-
dc.contributor.authorPerucca, Piero-
dc.identifier.citationEpileptic disorders : International Epilepsy Journal with Videotape 2023-08; 25(4)en_US
dc.description.abstractA 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.en_US
dc.titlePostmortem Genetic Testing in Sudden Unexpected Death in Epilepsy.en_US
dc.typeJournal Articleen_US
dc.identifier.journaltitleEpileptic disorders : International Epilepsy Journal with Videotapeen_US
dc.identifier.affiliationAgnes Ginges Centre for Molecular Cardiology at Centenary Institute, University of Sydney, Sydney, NSW, Australia.en_US
dc.identifier.affiliationEpilepsy Research Centreen_US
dc.identifier.affiliationFaculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.en_US
dc.identifier.affiliation7Department of Neurology, The Royal Melbourne Hospital, Melbourne, VIC, Australia.en_US
dc.identifier.pubmedid37340991-, Piero-
item.openairetypeJournal Article-
item.fulltextNo Fulltext-
item.grantfulltextnone- Epilepsy Program-
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