benign epilepsy
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2021 ◽  
Vol 12 ◽  
Author(s):  
Lin Jiang ◽  
Xuejin Ma ◽  
Heng Liu ◽  
Ji Wang ◽  
Jiaren Zhang ◽  
...  

Objective: To explore the dynamic features of intrinsic brain activity measured by fMRI in children with benign epilepsy with centrotemporal spikes (BECTS) and examine whether these indexes were associated with behaviors.Methods: We recruited 26 children with BECTS (10.35 ± 2.91 years) and 26 sex-, and age-matched (11.35 ± 2.51 years) healthy controls (HC) and acquired resting-state functional magnetic resonance imaging (rs-fMRI) and behavioral data. Dynamic regional homogeneity (dReHo), including mean and coefficient of variation (CV) metrics derived from the rs-fMRI data, and were compared between the BECTS and the HC groups.Results: Significantly decreased mean dReHo in bilateral supramarginal gyrus, left middle temporal gyrus (MTG.L), left postcentral gyrus and superior occipital gyrus were found in children with BECTS. Meanwhile, increased CV of dReHo in MTG.L and right fusiform in children with BECTS was revealed compared with HC. Further analyses of functional connectivity revealed decreased global signal FC existed in similar regions, linked with linguistic, social cognition, and sensorimotor processes, in children with BECTS compared with HCs. Moreover, the association analyses showed that the CV of dReHo in MTG.L was positively associated with age and a negative correlation was found between mean dReHo of MTG.L and disease duration. Besides, the CV of dReHo in MTG.L was found positively associated with the intelligence quotient (IQ) language scores and full IQ scores in children with BECTS, and the CV of dReHo in the left inferior temporal gyrus and Rolandic operculum were positively correlated with IQ operation scores and full IQ scores.Conclusion: Aberrant dynamic regional coherence in sensorimotor, linguistic, and lateral temporal regions suggests dynamical interplay that underlying cognitive performance in children with BECTS, suggesting an intrinsic dynamic mechanism for BECTS.


2021 ◽  
Vol 9 (33) ◽  
pp. 10116-10125
Author(s):  
Rui-Hua Chen ◽  
Bing-Fei Li ◽  
Jian-Hua Wen ◽  
Chun-Lan Zhong ◽  
Ming-Ming Ji

2021 ◽  
Vol 124 ◽  
pp. 108276
Author(s):  
Pengfei Wang ◽  
Yihan Li ◽  
Yulei Sun ◽  
Jingtao Sun ◽  
Kai Niu ◽  
...  

2021 ◽  
pp. 100432
Author(s):  
Jens G. Klinzing ◽  
Lilian Tashiro ◽  
Susanne Ruf ◽  
Markus Wolff ◽  
Jan Born ◽  
...  

2021 ◽  
Vol 88 ◽  
pp. 22-27
Author(s):  
Lulu Wu ◽  
Xinyu Yang ◽  
Xiaocui Wang ◽  
Shuang Yu ◽  
Bin Yang

Author(s):  
Yuting Li ◽  
Jianhua Feng ◽  
Teng Zhang ◽  
Kexin Shi ◽  
Yao Ding ◽  
...  

2021 ◽  
Vol 12 ◽  
Author(s):  
Cong Fu ◽  
Aikedan Aisikaer ◽  
Zhijuan Chen ◽  
Qing Yu ◽  
Jianzhong Yin ◽  
...  

The stark discrepancy in the prognosis of epilepsy is closely related to brain damage features and underlying mechanisms, which have not yet been unraveled. In this study, differences in the epileptic brain functional connectivity states were explored through a network-based connectivity analysis between intractable mesial temporal lobe epilepsy (MTLE) patients and benign epilepsy with centrotemporal spikes (BECT). Resting state fMRI imaging data were collected for 14 MTLE patients, 12 BECT patients and 16 healthy controls (HCs). Independent component analysis (ICA) was performed to identify the cortical functional networks. Subcortical nuclei of interest were extracted from the Harvard-Oxford probability atlas. Network-based statistics were used to detect functional connectivity (FC) alterations across intranetworks and internetworks, including the connectivity between cortical networks and subcortical nuclei. Compared with HCs, MTLE patients showed significant lower activity between the connectivity of cortical networks and subcortical nuclei (especially hippocampus) and lower internetwork FC involving the lateral temporal lobe; BECT patients showed normal cortical-subcortical FC with hyperconnectivity between cortical networks. Together, cortical-subcortical hypoconnectivity in MTLE suggested a low efficiency and collaborative network pattern, and this might be relevant to the final decompensatory state and the intractable prognosis. Conversely, cortical-subcortical region with normal connectivity remained well in global cooperativity, and compensatory internetwork hyperconnectivity caused by widespread cortical abnormal discharge, which might account for the self-limited clinical outcome in BECT. Based on the fMRI functional network study, different brain network patterns might provide a better explanation of mechanisms in different types of epilepsy.


2021 ◽  
Vol 15 ◽  
Author(s):  
Mei-Gang Ma ◽  
Xiao-Rong Liu ◽  
Yuan Wu ◽  
Jie Wang ◽  
Bing-Mei Li ◽  
...  

RYR2 encodes ryanodine receptor 2 protein (RYR-2) that is mainly located on endoplasmic reticulum membrane and regulates intracellular calcium concentration. The RYR-2 protein is ubiquitously distributed and highly expressed in the heart and brain. Previous studies have identified the RYR2 mutations in the etiology of arrhythmogenic right ventricular dysplasia 2 and catecholaminergic polymorphic ventricular tachycardia. However, the relationship between RYR2 gene and epilepsy is not determined. In this study, we screened for novel genetic variants in a group of 292 cases (families) with benign epilepsy of childhood with centrotemporal spikes (BECTS) by trio-based whole-exome sequencing. RYR2 mutations were identified in five cases with BECTS, including one heterozygous frameshift mutation (c.14361dup/p.Arg4790Pro fs∗6), two heterozygous missense mutations (c.2353G > A/p.Asp785Asn and c.8574G > A/p.Met2858Ile), and two pairs of compound heterozygous mutations (c.4652A > G/p.Asn1551Ser and c.11693T > C/p.Ile3898Thr, c.7469T > C/p.Val2490Ala and c.12770G > A/p.Arg4257Gln, respectively). Asp785Asn was a de novo missense mutation. All the missense mutations were suggested to be damaging by at least three web-based prediction tools. These mutations do not present or at low minor allele frequency in gnomAD database and present statistically higher frequency in the cohort of BECTS than in the control populations of gnomAD. Asp785Asn, Asn1551Ser, and Ile3898Thr were predicted to affect hydrogen bonds with surrounding amino acids. Three affected individuals had arrhythmia (sinus arrhythmia and occasional atrial premature). The two probands with compound heterozygous missense mutations presented mild cardiac structural abnormalities. Strong evidence from ClinGen Clinical Validity Framework suggested an association between RYR2 variants and epilepsy. This study suggests that RYR2 gene is potentially a candidate pathogenic gene of BECTS. More attention should be paid to epilepsy patients with RYR2 mutations, which were associated with arrhythmia and sudden unexpected death in previous reports.


2021 ◽  
Vol 44 (2) ◽  
pp. 39-46
Author(s):  
Lucia Gerstl ◽  
Eva Willimsky ◽  
Constanze Rémi ◽  
Soheyl Noachtar ◽  
Ingo Borggräfe ◽  
...  

Author(s):  
Gui-hai Suo ◽  
Yu-qin Zheng ◽  
You-jia Wu ◽  
Ji-hong Tang

AbstractLevetiracetam (LEV) and oxcarbazepine (OXC) are commonly used in the treatment of epilepsy, but their efficacy and safety have seldom been compared for the treatment of children with benign epilepsy with centrotemporal spikes (BECTS). We thus assessed the efficacy of LEV and OXC monotherapy in the treatment of children with BECTS, and the effect of this treatment on children’s intelligence and cognitive development. This was a randomized, single-center trial. Children with BECTS were randomized (1:1) into LEV and OXC groups, and were assessed at 1, 3 and 6 months after treatment. The primary outcomes were the frequency of seizures and changes in intelligence and cognitive function. Secondary outcomes were electroencephalogram (EEG) results and safety. Seventy children were enrolled and randomized to the LEV group or the OXC group, and 32 of the 35 children in each group completed the study. After 6 months, the effective treatment rate of the OXC group was significantly higher than that of the LEV group (78.12 vs. 53.12%, p = 0.035). However, no significant inter-group difference was observed in EEG improvement (p = 0.211). In terms of intelligence and cognitive development, children in the OXC group exhibited significantly improved choice reaction time, mental rotation, and Wisconsin Card Sorting Test results (all p < 0.05). Both LEV and OXC were well tolerated, with 18.75 and 21.88% of children reporting mild adverse events (p = 0.756). OXC monotherapy was more effective than LEV for children with BECTS. In addition, children with OXC monotherapy had higher improvements in children’s intelligence and cognitive function than those with LEV monotherapy.


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