Do Rates of Status Epilepticus and SUDEP Vary Between Different Genetic Developmental and Epileptic Encephalopathies?
Abstract number :
2.147
Submission category :
4. Clinical Epilepsy / 4D. Prognosis
Year :
2022
Submission ID :
2204404
Source :
www.aesnet.org
Presentation date :
12/4/2022 12:00:00 PM
Published date :
Nov 22, 2022, 05:24 AM
Authors :
Sophie Russ-Hall, BSc (Hons) – Department of Medicine, University of Melbourne, Austin Health; Alice Donnan, BSc, MD – Department of Medicine, University of Melbourne, Austin Health; Amy Schneider, BA, BSc, MGenCouns – Department of Medicine, University of Melbourne, Austin Health; Leonid Churilov, BSc, PhD – Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne; Florey Institute of Neurosciences and Mental Health; Ingrid Scheffer, MBBS, PhD, FRACP – Department of Medicine, University of Melbourne, Austin Health; Florey Institute of Neurosciences and Mental Health; Department of Paediatrics, University of Melbourne, Royal Children's Hospital
This abstract has been invited to present during the Clinical Research platform session
Rationale: Genetic developmental and epileptic encephalopathies (DEEs) are associated with 400 different genes, leading to 400 different diseases. The rates of convulsive status epilepticus (CSE), nonconvulsive status epilepticus (NCSE) and sudden unexplained death in epilepsy (SUDEP) for specific genetic DEEs are not well understood. We aimed to compare the rates of CSE, NCSE and SUDEP for more frequent genetic DEEs. Estimating the risks of status epilepticus and SUDEP in each genetic DEE will enable prompt diagnosis and appropriate management of these life-threatening presentations.
Methods: We identified patients who were recruited to the Epilepsy Research Centre, Australia with the following more common genetic DEEs: SCN1A, SCN2A, SCN8A, SYNGAP1, NEXMIF, CHD2, PCDH19, STXBP1, GRIN2A, KCNT1, KCNQ2 and Angelman syndrome (AS). We performed a retrospective analysis of clinical and EEG records to estimate the rates of CSE, NCSE and SUDEP for each genetic DEE.
Results: We recruited 510 patients with 12 genetic DEEs. They had a median age of 10 years (range 1 month – 79 years), with 239/510 (77%) under age 18 years. Convulsive status epilepticus is more common than NCSE, occurring in 239/510 (47%), compared with NCSE in 96/510 (19%). The median age of the first occurrence of CSE was 8 months compared with later for NCSE at 5 years. Patients with a SCN1A-DEE had the highest proportion of CSE with 180/202 (89%) having Dravet syndrome and 9/16 (56%) with non-Dravet SCN1A-DEEs. This was followed by KCNT1-DEE (6/10; 60%), SCN2A-DEE (8/15; 53%) and STXBP1-DEE (6/17; 35%). Non-Dravet SCN1A-DEEs had the highest rates of NCSE (8/16; 50%) followed by CHD2-DEE (6/14; 43%) and AS (6/19; 32%).
Of the 42/510 (8%) patients who had died, 18/42 (43%) were due to SUDEP. Four of these were classified as definite SUDEP, 2 as definite SUDEP plus and twelve as probable SUDEP. The remaining deaths were attributed to status epilepticus, cerebral oedema, respiratory infection and drowning. The highest rates of SUDEP were seen in the SCN1A-DEE cohort with 12/202 (5.9%) having Dravet syndrome and 2/16 (13%) a non-Dravet SCN1A-DEE. Of the 12 genetic DEEs studied, SCN1A, SCN2A, SCN8A and STXBP1 were associated with deaths from SUDEP, while SUDEP was not reported in the remaining genetic cohorts.
Conclusions: Rates of CSE, NCSE, mortality and SUDEP differ for different genetic DEEs. Understanding each genetic disease’s propensity for these life-threatening emergencies is essential to enable early recognition and appropriate management. These data will provide peace of mind to families whose children have a genetic DEE that is not at high risk of CSE, NCSE or death.
Funding: Australian NHMRC, MRFF, and the Australian Epilepsy Research Fund
Clinical Epilepsy