PMC8795361_01
PMC8795361_02
Electroencephalogram (EEG). (a,b) Routine sleep EEG tracing at the age of 11 months. Continuous spike-waves from the bilateral frontal regions, forming more than 80% of the sleep recording, suggesting an electrical status epilepticus during slow-wave sleep (ESES) like EEG finding. (c) Overnight sleep EEG tracing at the age of 2 years and 10 months. Almost continuous spike- waves predominantly over both frontal regions were occupying more than 80% of the sleep recording, which is consistent with ESES.
fneur-12-796283-g0001.jpg
PMC8795361_02_fneur-12-796283-g0001.jpg
F1
When the patient first experienced complex febrile seizures at the age of 11 months, the routine sleep EEG evaluation showed continuous spike-waves from the bilateral frontal regions, forming more than 80% of the sleep recording, which suggests the presence of electrical status epilepticus during slow wave sleep (ESES) (Figure 1). ESES was still detected after the seizures were controlled for more than 1 year when he was 2 years and 10 months old and further confirmed during an overnight sleep EEG (Figure 1).
Brain MRI finding at the age of 11 months. MRI [(A,B) T2, (C) T1] demonstrated the widening of the extracerebral space at the bilateral temporal poles.
fneur-12-796283-g0002.jpg
PMC8795361_02_fneur-12-796283-g0002.jpg
F2
At that time, brain magnetic resonance imaging revealed widening of the extracerebral space at the bilateral temporal poles (Figure 2).
RT-PCR analysis of the proband. (A) RT-PCR electrophoresis products on agarose gel. Lane 1: SLC9A6 gene amplification in proband's sample, Lane 2: SLC9A6 gene amplification in normal sample, Lane 3: Reference gene amplification in proband's sample, Lane 4: Reference gene amplification in normal sample. SLC9A6 gene mRNA expression in peripheral blood cells. (B) Sequencing analysis. A skipped exon 10 showed in proband's cDNA compared to the sequencing analysis of a wild type sample.
fneur-12-796283-g0003.jpg
PMC8795361_02_fneur-12-796283-g0003.jpg
F3
PCR product by agarose gel electrophoresis confirmed expression of the SLC9A6 gene transcript expressed in peripheral blood cells of the proband. PCR amplification and sequencing of the exons flanking the target loci confirmed abnormal splicing near the mutation site with complete skipping of exon 10 (Figure 3).