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. 2023 Oct 25;53(6):1840-1851.
doi: 10.55730/1300-0144.5754. eCollection 2023.

Microstructural evaluation of the brain with advanced magnetic resonance imaging techniques in cases of electrical status epilepticus during sleep (ESES)

Affiliations

Microstructural evaluation of the brain with advanced magnetic resonance imaging techniques in cases of electrical status epilepticus during sleep (ESES)

Hanife Gülden Düzkalir et al. Turk J Med Sci. .

Abstract

Background/aim: The cause and treatment of electrical status epilepticus during sleep (ESES), one of the epileptic encephalopathies of childhood, is unclear. The aim of this study was to evaluate possible microstructural abnormalities in the brain using advanced magnetic resonance imaging (MRI) techniques in ESES patients with and without genetic mutations.

Materials and methods: This research comprised 12 ESES patients without structural thalamic lesions (6 with genetic abnormalities and 6 without) and 12 healthy children. Whole-exome sequencing was used for the genetic mutation analysis. Brain MRI data were evaluated using tractus-based spatial statistics, voxel-based morphometry, a local gyrification index, subcortical shape analysis, FreeSurfer volume, and cortical thickness. The data of the groups were compared.

Results: The mean age in the control group was 9.05 ± 1.85 years, whereas that in the ESES group was 9.45 ± 2.72 years. Compared to the control group, the ESES patients showed higher mean thalamus diffusivity (p < 0.05). ESES patients with genetic mutations had lower axial diffusivity in the superior longitudinal fasciculus and gray matter volume in the entorhinal region, accumbens area, caudate, putamen, cerebral white matter, and outer cerebellar areas. The superior and middle temporal cortical thickness increased in the ESES patients.

Conclusion: This study is important in terms of presenting the microstructural evaluation of the brain in ESES patients with advanced MRI analysis methods as well as comparing patients with and without genetic mutations. These findings may be associated with corticostriatal transmission, ictogenesis, epileptogenesis, neuropsychiatric symptoms, cognitive impairment, and cerebellar involvement in ESES. Expanded case-group studies may help to understand the physiology of the corticothalamic circuitry in its etiopathogenesis and develop secondary therapeutic targets for ESES.

Keywords: Electrical status epilepticus during sleep; genetic mutation; microstructural analysis; morphometry; tractus-based spatial statistics.

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Conflict of interest statement

Conflict of interest: The authors declare that they have no conflicts of interest.

Figures

Figure 1
Figure 1
Schematic representation of the thalamus-specific analysis technique.
Figure 2
Figure 2
Schematic representation of the TBSS analysis.
Figure 3
Figure 3
ROI analysis of the AD, FA, MD, RD values in the ESES and control groups.
Figure 4
Figure 4
Comparison of the ESES groups with and without genetic mutations, areas showing increased AD in patients with mutations.
Figure 5
Figure 5
VBM analysis: (a) Locations of decreased GM volume in the mutation-positive ESES: Left entorhinal area, left putamen, left cerebral WM, left accumbens area, left caudate, right cerebellum exterior, right putamen, right cerebral WM, left cerebellum exterior, left cerebellum exterior, and (b) the appearance of the same areas in the glass brain image.
Figure 6
Figure 6
FreeSurfer volume and cortical thickness analysis results: areas with increased cortical thickness in the ESES group; superior temporal and middle temporal.

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