Abstract
Objective: To study the single nucleotide polymorphism rs662702 of ELP4-PAX6 in patients with idiopathic rolandic epilepsy syndromes (IRES) in China and explore the relationship between the distribution of rolandic spike sources and the single nucleotide polymorphism rs662702 in ELP4-PAX6.Methods: First, clinical information was obtained from patients diagnosed with IRES. Next, the single nucleotide polymorphism rs662702 of ELP4 was analyzed by using the Sanger method. Resting-state magnetoencephalography data were collected from 17 patients. We analyzed the epileptic spike sources using the single equivalent current dipole (SECD) model and determined the spike distributions across the whole brain. Finally, Fisher's test was performed to assess the correlation between the single nucleotide polymorphism rs662702 of ELP4-PAX6 and rolandic spike sources.Results: ELP4 rs662702 T alleles were found in 10.7% of IRES patients and occurred four times more frequently in these patients than in the healthy controls. TT homozygosity was found in one IRES patient (1.3%), while no TT homozygosity was found in the healthy control group. The IRES rolandic spike sources were unilateral in sixteen patients (94.1%) and were mainly located in the anterior central gyrus (58.8%). The spike source of patients without the ELP4 rs662702 T allele was correlated with the central region (p < 0.05). The rolandic spikes sources were significant correlated with the non-central gyrus (frontal and temporal lobes) in patients with the ELP4 rs662702 T allele (p < 0.05).Conclusion: The rolandic spike sources of the IRES patients with the ELP4 rs662702 T allele were significantly associated with the non-central gyrus, including the frontal and temporal lobes. Our study confirmed for the first time in vivo that ELP4 rs662702 T allele overexpression is correlated with the rolandic spike distribution in patients with IRES and provides important insights into how genetic abnormalities can lead to brain dysfunction and into the precise targeting of abnormal discharge sources in the brain.
Highlights
Idiopathic rolandic epilepsy syndromes (IRES) is the most common focal epilepsy syndrome occurring in children and is diagnosed based on age-dependent focal seizures, sharpwave discharges, and normal brain MRI
We aimed to study the relationship between the distributions of centrotemporal spikes (CTSs) sources and gene variations in terms of rs662702 in ELP4-PAX6
benign epilepsy with centrotemporal spikes (BECTS) accounted for 94.7% of IRES cases, atypical benign partial epilepsy (ABPE) accounted for 4%, and continuous spikes and waves during slow-wave sleep (CSWS) accounted for 1.3%, which is in accordance with the proportion of BECTS in IRES (87.2–94.6%) reported in a previous study [21,22,23]
Summary
Idiopathic rolandic epilepsy syndromes (IRES) is the most common focal epilepsy syndrome occurring in children and is diagnosed based on age-dependent focal seizures, sharpwave discharges, and normal brain MRI. IRES exhibit a phenotypic spectrum ranging from benign epilepsy with centrotemporal spikes (BECTS) ( called rolandic epilepsy) to atypical benign partial epilepsy (ABPE), Landau–Kleffner syndrome (LKS), and epileptic encephalopathy with continuous spikes and waves during slow-wave sleep (CSWS) [1, 2]. Electroencephalograms (EEGs) show centrotemporal spikes (CTSs) (mainly rolandic spikes) [3]. ABPE, LKS, and CSWS, at the severe end of the spectrum, share the common EEG feature of rolandic spikes. They are characterized by more severe disorders with diverse seizure types and/or a highly pathological EEG. Patients with all of these types show language, cognitive, and behavioral deficits [4, 5]
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