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Structural brain MRI abnormalities in SCN1A-, SCN2A-, SCN3A-, and SCN8A-related epilepsies: a cohort study
Daewoong Ahn1, Daehyun Kim1, Hyeon Deok Sang2
1Yonsei University College of Medicine, Seoul, Republic of Korea.
Insights
Structural brain MRI abnormalities are common in SCN-related epilepsies, especially SCN2A and SCN8A types. These findings aid in diagnosing and understanding genetic epilepsy involving voltage-gated sodium channels.
Area of Science:
- Neuroimaging
- Genetics
- Epilepsy
Background:
- Genetic epilepsies involving voltage-gated sodium channels (SCN) are increasingly recognized.
- Understanding the neuroimaging patterns associated with specific SCN gene mutations is crucial for diagnosis and management.
- Previous assumptions may have underestimated the prevalence of structural brain abnormalities in these conditions.
Purpose of the Study:
- To determine the frequency and types of structural brain MRI abnormalities in children with SCN1A, SCN2A, SCN3A, or SCN8A-related epilepsies.
- To identify specific MRI features associated with different SCN gene mutations (genotype-specific patterns).
Main Methods:
- Retrospective analysis of brain MRI scans from 139 pediatric patients with genetically confirmed SCN1A, SCN2A, SCN3A, or SCN8A pathogenic variants.
- MRI findings were classified using a standardized framework.
- Comparison of MRI abnormalities across different SCN genotypes.
Main Results:
- Structural MRI abnormalities were present in 37.4% (52/139) of patients.
- The most frequent abnormalities included atrophy (21.6%), hippocampal abnormalities (6.5%), and white matter signal abnormalities (5.0%).
- Abnormalities were most prevalent in SCN2A (70.6%) and SCN8A (42.9%) epilepsy groups, contrasting with SCN1A (31.6%). Specific patterns were observed for each genotype, including cortical malformations in SCN2A and vascular abnormalities in SCN3A.
Conclusions:
- Structural MRI abnormalities are more common in SCN-related epilepsies than previously thought, particularly in SCN2A and SCN8A-related forms.
- Brain MRI findings can assist in the diagnosis, phenotypic classification, and prognosis of genetic epilepsies linked to voltage-gated sodium channel dysfunction.
- Genotype-specific MRI patterns offer valuable insights into the underlying pathophysiology.
Purpose:
To characterize the prevalence and patterns of structural brain magnetic resonance imaging (MRI) abnormalities in children with genetically confirmed SCN1A-, SCN2A-, SCN3A-, or SCN8A-related epilepsy and to identify genotype-specific imaging features.
Methods:
We retrospectively analyzed brain MRI findings from a single-center cohort of 139 pediatric patients with pathogenic variants of SCN1A (n = 114), SCN2A (n = 17), SCN3A (n = 1), or SCN8A (n = 7), evaluated between 2010 and 2023. MRI abnormalities were categorized using a standardized classification framework and compared across the genotypes.
Results:
MRI abnormalities were identified in 52 of the 139 patients (37.4%). The most common findings were atrophy (21.6%), hippocampal abnormalities (6.5%), white matter signal abnormalities (5.0%) and hypoxic-ischemic encephalopathy (3.6%). Abnormalities were most frequent in the SCN2A (70.6%) group, followed by the SCN8A (42.9%) and SCN1A (31.6%) groups; one patient with SCN3A-related epilepsy also exhibited abnormal findings. In SCN1A-related epilepsies, the most common abnormalities were cerebral atrophy (15.8%) and hippocampal abnormalities (6.1%). In SCN2A-related epilepsies, common abnormalities included atrophy (58.8%), white matter signal abnormalities (17.6%), hypoxic-ischemic encephalopathy (11.8%) and malformations of cortical development (11.8%). In SCN8A-related epilepsies, common findings included atrophy (28.6%), hippocampal abnormalities (14.3%), and white matter signal abnormalities (14.3%). One patient with SCN3A-related epilepsy exhibited vascular abnormalities.
Conclusion:
Contrary to earlier assumptions, structural MRI abnormalities are common in SCN-related epilepsies, particularly in SCN2A-and SCN8A-related epilepsies. MRI may aid in the diagnosis, phenotypic stratification, and prognostication of genetic epilepsy involving voltage-gated sodium channels.
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