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Deciphering the Natural History of SCN8A-Related Disorders.
Jan H Magielski1,2,3, Stacey Cohen1,2,3, Michael C Kaufman1,2,3
1Division of Neurology, Children's Hospital of Philadelphia, PA.
Neurology
|April 14, 2025
Summary
SCN8A-related disorders present unique early epilepsy and developmental challenges, especially in gain-of-function variant carriers. This study characterizes their longitudinal progression, aiding precision medicine for SCN8A channelopathies.
Area of Science:
- Genetics
- Neuroscience
- Epilepsy Research
Background:
- SCN8A-related disorders are common epilepsy channelopathies with poorly understood longitudinal phenotypes.
- Characterizing the natural history of SCN8A disorders is crucial for effective management and treatment.
Purpose of the Study:
- To reconstruct the natural history of SCN8A-related disorders.
- To compare the phenotypes of SCN8A disorders with other genetic epilepsies.
- To identify specific genotype-phenotype correlations within SCN8A disorders.
Main Methods:
- Harmonized electronic medical record data from 82 individuals with SCN8A-related disorders.
- Comparison with a cohort of 2,833 individuals with known or presumed genetic epilepsies.
- Longitudinal analysis of seizure types, developmental delay, and variant-specific phenotypes.
Main Results:
- SCN8A disorders show a >10-fold increased odds of bilateral tonic-clonic seizures by age 1 compared to other genetic epilepsies.
- Gain-of-function (GOF) SCN8A variants are associated with high early seizure risk and developmental delay.
- Loss-of-function variants correlate with atypical absence seizures, while specific recurrent variants are linked to infantile spasms, neonatal seizures, and later-onset epilepsy.
Conclusions:
- SCN8A-related disorders exhibit distinct early bilateral tonic-clonic seizures and prominent developmental features in GOF carriers.
- Specific recurrent SCN8A variants are associated with unique seizure phenotypes.
- This longitudinal study provides a foundation for precision medicine approaches in SCN8A channelopathies.
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