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Idiopathic generalized epilepsy (IGE) is a complex epilepsy syndrome with various subtypes that appear normal on conventional magnetic resonance imaging (MRI). However, advanced quantitative MRI techniques have revealed subtle structural abnormalities. This study aims to identify specific cerebral regions with structural and volumetric alterations in IGE patients. A retrospective study was conducted on 38 IGE patients and 38 age and sex-matched healthy control subjects. MRI images were processed and segmented semi-automatically to extract volumes of cortical and subcortical brain regions. Statistical analysis was performed to compare volumes between IGE patients and controls. IGE patients exhibited significantly increased volumes in the precuneus ( p  = 0.002), and the pallidum ( p  < 0.001) compared to control subjects. No significant differences were observed in other regions, such as the precentral gyrus and frontal gyri. This study highlights conflicting results in the literature regarding radiologic volumetric data in IGE. While our findings imply the potential utility of incorporating volumetric analysis in the radiologic diagnosis of IGE patients to enhance targeted treatment approaches, it is important to exercise caution in interpreting these results, especially since these are primarily based on group-wise comparison. The increased volumes of the precuneus and pallidum in IGE patients suggest possible diagnostic implications. However, the extent of their clinical significance necessitates further investigation. Further research should investigate the clinical significance of these volumetric alterations and their potential role in guiding personalized treatment strategies for IGE patients.

BACKGROUND: Routine magnetic resonance imaging (MRI) in juvenile myoclonic epilepsy (JME) often shows no obvious abnormalities. However, recent neuroimaging investigations have highlighted potential structural and functional abnormalities in the thalamus of JME patients. This study aimed to investigate brain anatomical differences in JME patients using volBrain, a quantitative assessment method that, to the best of our knowledge, represents one of the first such analyses in the literature. MATERIALS AND METHODS: Seventeen patients diagnosed with JME, 18 patients with generalised tonic-clonic seizures alone (GTCA), and 15 healthy controls (HCs) were included in the study. Before starting antiepileptic treatment, we analysed subcortical grey matter volumes in patients with JME, those with GTCA, and HCs, using the volBrain method. RESULTS: Seventeen patients with JME (11 females, mean age = 16.1 ± 3.2), 18 patients with GTCA (10 females, mean age = 15.5 ± 2.9), and 15 HCs (10 females, mean age = 15.9 ± 2.8) were included in the analysis. No significant difference was found for relative globus pallidus, caudate, or putamen volumes among the groups with JME, GTCA, and the HC group. In pairwise comparisons, both right and left thalamic volumes were lower in patients with JME than in HCs, and in patients with JME than in patients with GTCA. CONCLUSIONS: This study underlines the role of volume analysis and the volBrain method in detecting thalamic microstructural changes in JME patients, even when conventional MRI results are normal.

Genetic generalized epilepsy (GGE) including childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy (JME), and GGE with tonic–clonic seizures (TCS) (GGE-TCS), is genetically influenced with a two- to four- fold increased risk in the first-degree relatives of patients. Since large families with GGE are very rare, international studies have focused on sporadic GGE patients using whole exome sequencing, suggesting that GGE are highly genetically heterogeneous and rather involve rare or ultra-rare variants. Moreover, a polygenic mode of inheritance is suspected in most cases. We performed SNP microarrays and whole exome sequencing in 20 families from Sudan, focusing on those with at least four affected members. Standard genetic filters and Endeavour algorithm for functional prioritization of genes selected likely susceptibility variants in FAT1, DCHS1 or ASTN2 genes. FAT1 and DCHS1 are adhesion transmembrane proteins interacting during brain development, while ASTN2 is involved in dendrite development. Our approach on familial forms of GGE is complementary to large-scale collaborative consortia studies of sporadic cases. Our study reinforces the hypothesis that GGE is genetically heterogeneous, even in a relatively limited geographic area, and mainly oligogenic, as supported by the low familial penetrance of GGE and by the Bayesian algorithm that we developed in a large pedigree with JME. Since populations with founder effect and endogamy are appropriate to study autosomal recessive pathologies, they would be also adapted to decipher genetic components of complex diseases, using the reported bayesian model. Graphical Abstract

Background By definition, the background EEG is normal in juvenile myoclonic epilepsy (JME) patients and not accompanied by other developmental and cognitive problems. However, some recent studies using quantitative EEG (qEEG) reported abnormal changes in the background activity. QEEG investigation in patients undergoing anticonvulsant treatment might be a useful approach to explore the electrophysiology and anticonvulsant effects in JME. Methods We investigated background EEG activity changes in patients undergoing valproic acid (VPA) treatment using qEEG analysis in a distributed source model. In 17 children with JME, non-parametric statistical analysis using standardized low-resolution brain electromagnetic tomography was performed to compare the current density distribution of four frequency bands (delta, theta, alpha, and beta) between untreated and treated conditions. Results VPA reduced background EEG activity in the low-frequency (delta-theta) bands across the frontal, parieto-occipital, and limbic lobes (threshold log- F -ratio = ±1.414, p < 0.05; threshold log- F -ratio= ±1.465, p < 0.01). In the delta band, comparative analysis revealed significant current density differences in the occipital, parietal, and limbic lobes. In the theta band, the analysis revealed significant differences in the frontal, occipital, and limbic lobes. The maximal difference was found in the delta band in the cuneus of the left occipital lobe (log- F -ratio = −1.840) and the theta band in the medial frontal gyrus of the left frontal lobe (log- F -ratio = −1.610). Conclusions This study demonstrated the anticonvulsant effects on the neural networks involved in JME. In addition, these findings suggested the focal features and the possibility of functional deficits in patients with JME.

Background Juvenile myoclonic epilepsy (JME) is characterized by generalized seizures. Nearly 30% of JME patients are drug‐resistant (DR‐JME), indicating a widespread cortical dysfunction. Walking is an important function that necessitates orchestrated coordination of frontocentral cortical regions. However, gait alterations in JME have been scarcely investigated. Our aim was to assess changes in gait and motor‐evoked responses in DR‐JME patients. Methods Twenty‐nine subjects (11 JME drug‐responder, 8 DR‐JME, and 10 healthy controls) underwent a gait analyses during usual walking and dual‐task walking. Later, subjects underwent 64‐channel EEG recordings while performing a simple motor task. We calculated the motor‐evoked current source densities (CSD) at a priori chosen cortical regions. Gait and CSD measures were compared between groups and tasks using mixed model analysis. Results DR‐JME patients demonstrated an altered gait pattern that included slower gait speed (p = .018), reduced cadence (p = .003), and smaller arm‐swing amplitude (p = .011). The DR‐JME group showed higher motor‐evoked CSD in the postcentral gyri compared to responders (p = .049) and both JME groups showed higher CSD in the superior frontal gyri compared to healthy controls (p < .011). Moreover, higher CSD in the superior frontal gyri correlated with worse performance in dual‐task walking (r > |–0.494|, p < .008). Conclusions These alterations in gait and motor‐evoked responses in DRE‐JME patients reflect a more severe dysfunction of motor‐cognitive neural processing in frontocentral regions, leading to poorer gait performance. Further studies are needed to investigate the predictive value of altered gait and cortical motor processing as biomarkers for poor response to treatment in JME and other epilepsy syndromes. Patients with JME demonstrated abnormal gait pattern compared to healthy controls, which were even more accentuated in drug‐resistant patients. Furthermore, we found different spatial distribution of motor evoked potentials that strongly correlated with the abnormal gait measures. Overall, our results suggest that detailed gait assessment should be sought after in JME patients, as it possible reflects motor‐cognitive neural integrity and patients' responsiveness to medications.

Background: Juvenile myoclonic epilepsy (JME) is referred to as one of the most common epileptic syndromes. Several anti-epilepsy drugs (AEDs) have been developed and remain part of clinical intervention with varying safety and efficacy profiles. Comprehensive synthesis of the scientific evidence examining the safety and efficacy of clonazepam toward the treatment of JME was carried out in the study. Methods: A detailed scientific literature search was made utilizing the most relevant scientific studies published to date on the intervention of clonazepam in the management of JME. In this study, a detailed search was made in multiple databases, including PubMed, Cochrane Central Register of Controlled Trials (CENTRAL), and Scielo databases. Confidence intervals among the studies and continuous measures, proportion, and risk factor analysis were determined using the MedCalC tool (Version 20.110) as per PRISMA guidelines. Results: A total of 6 studies out of 70 were found eligible for meta-analysis, where 186 JME patients were subjected to clonazepam intervention with controls. Clonazepam was reported effective in comparative analysis among six studies where P < 0.001. The result also shows a higher prevalence of JME in the female population compared to males (male versus female; 86/110). Efficacy and safety of clonazepam were reported significant as well. Conclusion: Clonazepam is effective AEDs for the management of JME. However, more clinical evidence requires for statistical validation of clinical efficacy.

GABA has always been an inviting target in the etiology and treatment of epilepsy. The GABRA1, GABRG2, and GABRD genes provide instructions for making α1, ϒ2, and δ subunits of GABAA receptor protein respectively. GABAA is considered as one of the most important proteins and has found to play an important role in many neurological disorders. We explored the association of GABAA receptor gene mutation/SNPs in JME and LGS patients in Indian population. A total of 100 epilepsy syndrome patients (50 JME and 50 LGS) and 100 healthy control subjects were recruited and analyzed by AS-PCR and RFLP-PCR techniques. In our study, GABRA1 965 C > A mutation and 15 A > G polymorphism gene may play an important role in modulating the drug efficacy in LGS patients. The GABRA1 15 A > G polymorphism may also play an important role in the susceptibility of LGS and the inheritance of GG genotype of this polymorphism may provide an increased risk of development of LGS. The GABRG2 588 C > T polymorphism may decrease the duration of seizures in JME patients. The GABRD 659 G > A polymorphism may play an important role in the susceptibility of JME and LGS and this polymorphism may also increase the duration of postictal period in JME patients but may decrease the duration of seizure in LGS patients.

IntroductionGenetic (idiopathic) generalized epilepsy (GGE) is a common form of epilepsy characterized by unknown aetiology and a presence of genetic component in its predisposition.MethodsTo understand the genetic factor in a family with GGE, we performed whole exome sequencing (WES) on a trio of a juvenile myoclonic epilepsy/febrile seizure (JME/FS) proband with JME/FS mother and healthy father. Sanger sequencing was carried out for validation of WES results and variant detection in other family members.ResultsPredictably damaging variant found in affected proband and mother but absent in healthy father in SCN1A gene was found to be associated with generalized epilepsy and febrile seizure. The novel non-synonymous substitution (c.5753C>T, p.S1918F) in SCN1A was found in all family members with GGE, of which 4/8 were JME subtypes, and/or febrile seizure, while 3 healthy family member controls did not have the mutation. This mutation was also absent in 41 GGE patients and 414 healthy Malaysian Chinese controls.ConclusionThe mutation is likely to affect interaction between the sodium channel and calmodulin and subsequently interrupt calmodulin-dependent modulation of the channel.

Idiopathic generalized epilepsy (IGE) represents a common form of epilepsy in both adult and pediatric epilepsy units. Although IGE has been long considered a relatively benign epilepsy syndrome, a remarkable proportion of patients could be refractory to treatment. While some clinical prognostic factors have been largely validated among IGE patients, the impact of routine electroencephalography (EEG) findings in predicting drug resistance is still controversial and a growing number of authors highlighted the potential importance of capturing the sleep state in this setting. In addition, the development of advanced computational techniques to analyze EEG data has opened new opportunities in the identification of reliable and reproducible biomarkers of drug resistance in IGE patients. In this manuscript, we summarize the EEG findings associated with treatment resistance in IGE by reviewing the results of studies considering standard EEGs, 24-h EEG recordings, and resting-state protocols. We discuss the role of 24-h EEG recordings in assessing seizure recurrence in light of the potential prognostic relevance of generalized fast discharges occurring during sleep. In addition, we highlight new and promising biomarkers as identified by advanced EEG analysis, including hypothesis-driven functional connectivity measures of background activity and data-driven quantitative findings revealed by machine learning approaches. Finally, we thoroughly discuss the methodological limitations observed in existing studies and briefly outline future directions to identify reliable and replicable EEG biomarkers in IGE patients.

Visual assessment of structural MRI is, by definition, normal in patients with juvenile myoclonic epilepsy (JME), a major subsyndrome of idiopathic generalized epilepsy (IGE). However, recent quantitative MRI studies have shown structural abnormalities in cortical and thalamic grey matter (GM) in JME. Voxel-based morphometry (VBM) is a fully automated, unbiased, operator-independent MRI analysis technique that detects regionally specific differences in brain tissue composition on a voxel-wise comparison between groups of subjects. Using VBM, we examined structural differences in cortical and subcortical GM volume (GMV) between 25 JME patients (15 women, mean age = 22.7 ± 5.1 years) and age- and sex-matched 44 control subjects (27 women, mean age = 23.1 ± 4.3 years). We also performed a correlation analysis to delineate a possible relationship between the GMV increases or reductions and the increasing duration of epilepsy. Group comparison showed GMV increases in the superior mesiofrontal region bilaterally and GMV reductions in the thalamus bilaterally in JME patients ( P < 0.05, corrected for multiple comparisons using false discovery rate). Correlation analysis revealed that bilateral thalamic GMV had negative correlations with the duration of epilepsy ( P < 0.05, corrected for multiple comparisons after small volume corrections; P < 0.05, Pearson correlation test). Our findings of GMV increases in the superior mesiofrontal regions and progressive thalamic atrophy could further support the pathophysiological concept of the functional abnormalities in thalamocortical circuit in JME.