Atrophic patterns seen on magnetic resonance imaging (MRI) could help differentiate Dravet syndrome (DS) from other neurological entities, according to a study recently published in Cerebral Cortex.

“We also observed that Dravet syndrome was associated with more severe atrophy patterns with respect to the genetic epilepsy with febrile seizures plus phenotype (r =−0.0613, P =0.03), thus suggesting that both the underlying mutation and seizure severity contribute to determine atrophic changes,” the authors wrote.

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This observational study included a total of 34 patients previously diagnosed with some form of epilepsy. All were carriers of a pathogenic mutation in the SCN1A gene (NM_001165963.1). Most (n=22) had received a diagnosis of DS, and the remaining 8 presented with genetic epilepsy with febrile seizures plus (GEFS+). The age range varied from 1 to 28 years of age, with a mean of 9.4 years. Another 34 individuals with no known history of epilepsy served as the healthy age-matched controls.

All subjects underwent MRIs to analyze the morphometric aspects of the cortical mantle and determine the volume of subcortical structures methods. The researchers also used network-based models to identify abnormal brain morphology characteristics and patterns, to compare such results between patients and controls later.

Bilateral atrophic changes in 3 different brain areas were present among the patient group. The amygdala, hippocampus, and temporo-limbic cortex exhibited a statistically significant variation in the patients’ brains compared to the control group.

Moreover, the investigators further studied a potential relationship between the degree of the atrophic changes and the clinical presentation. Patients with DS had atrophic patterns more severe than those with the GEFS+ genotype. These findings suggest that the genetic mutation and seizure severity could determine the atrophic patterns seen on MRIs.

“Extrapyramidal signs and gait abnormalities that are observed in adults with Dravet syndrome (Selvarajah et al. 2022) are in line with the progressive atrophic changes that emerged from our analysis,” the authors wrote.

Reference

Lenge M, Balestrini S, Mei D, et al. Morphometry and network-based atrophy patterns in SCN1A-related Dravet syndrome. Cereb Cortex. Published online June 21, 2023. doi:10.1093/cercor/bhad224