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Early mortality in SCN8A-related epilepsies.
Katrine M Johannesen1, Elena Gardella1, Ingrid Scheffer2
1The Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
Epilepsy Research
|April 21, 2018
Summary
SCN8A-related epilepsies are severe neurological disorders. While Sudden Unexpected Death in Epilepsy (SUDEP) is a concern, this study found mortality in SCN8A patients is comparable to other developmental and epileptic encephalopathies.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- SCN8A-related epilepsies are severe developmental and epileptic encephalopathies (DEEs) often characterized by treatment-resistant seizures and profound intellectual disability.
- Previous reports suggested a high mortality rate in SCN8A epilepsies, with Sudden Unexpected Death in Epilepsy (SUDEP) as a primary cause.
- Accurate risk assessment for SUDEP is crucial for patient and family counseling.
Purpose of the Study:
- To investigate the mortality rate in SCN8A-related epilepsies.
- To test the hypothesis that SUDEP is the main cause of death in this patient population.
- To analyze the causes and circumstances of death in a cohort of SCN8A patients.
Main Methods:
- A comprehensive review of all reported SCN8A patients was conducted.
- Data from unpublished patients were collected through an international network.
- A total of 190 patients' data were analyzed, including mortality and causes of death.
Main Results:
- Overall mortality in the studied cohort was 5.3% (10 out of 190 patients).
- The age at death ranged from 16 months to 17 years, with most deaths occurring in early childhood.
- Three patients died from probable or definite SUDEP, indicating no increased risk compared to other DEEs.
Conclusions:
- The mortality rate in SCN8A-related epilepsies is not significantly higher than in other DEEs.
- Death in these patients is often associated with progressive neurological decline, leading to complications like pulmonary infections and respiratory distress.
- While SUDEP can occur, other factors contribute significantly to mortality in SCN8A-related epilepsies.
