Idiopathic Generalized Epilepsy Research Articles

Neuroimaging in the Epileptic Baboon

Characterization of baboon model of genetic generalized epilepsy (GGE) is driven both electroclinically and by successful adoption of neuroimaging platforms, such as magnetic resonance imaging (MRI) and positron emission tomography (PET). Based upon its phylogenetic proximity and similar brain anatomy to humans, the epileptic baboon provides an excellent translational model. Its relatively large brain size compared to smaller nonhuman primates or rodents, a gyrencephalic structure compared to lissencephalic organization of rodent brains, and the availability of a large pedigreed colony allows exploration of neuroimaging markers of diseases. Similar to human idiopathic generalized epilepsy (IGE), structural imaging in the baboon is usually normal in individual subjects, but gray matter volume/concentration (GMV/GMC) changes are reported by statistical parametric mapping (SPM) analyses. Functional neuroimaging has been effective for mapping the photoepileptic responses, the epileptic network, altered functional connectivity of physiological networks, and the effects of anti-seizure therapies. This review will provide insights into our current understanding the baboon model of GGE through functional and structural imaging.

Semiologic differences between bilateral tonic-clonic seizures of focal onset and generalized onset

BackgroundFocal semiologies have been described in idiopathic generalized epilepsies (IGE) and generalized-onset bilateral tonic-clonic seizures (GBTCS). These focal signs may lead to wrong diagnosis and inappropriate choice of antiseizure medications. We sought to investigate the differences in focal semiologic features between GBTCS and focal-onset bilateral tonic-clonic seizures (FBTCS). MethodsWe retrospectively reviewed video-EEG data of captured GBTCS and FBTCS over a period of five years. The presence or absence of 12 focal signs as well seizure duration and time to head version was tabulated for each seizure. We used the chi-square test for independence and Fisher’s exact test to investigate the occurrence of each focal sign in FBTCS compared with GBTCS. Additionally, we used receiver operating characteristic (ROC) curves to explore if the seizure duration and time to head version from the ictal onset can reliably differentiate between FBTCS and GBTCS. Finally, we employed hierarchical cluster analysis to visualize how these focal signs appear in combination. ResultsHead version (p <.001), preceding automatisms (p <.001), eye version (p <.001), unilateral facial clonic activity (p <.001), and mouth deviation (p =.004) were found to be significantly more frequent in FBTCS. Longer seizures were highly in favor of FBTCS whereas shorter time to head version from the ictal onset indicated GBTCS in the ROC curve analysis. ConclusionsThough focal signs occur in GBTCS, careful evaluation of semiology can help the clinician distinguish FBTCS from GBTCS.

Causality Analysis to the Abnormal Subcortical-Cortical Connections in Idiopathic-Generalized Epilepsy.

Idiopathic generalized epilepsy (IGE) was characterized by 3–6 Hz generalized spike-wave discharges (GSWDs), and extensive altered interactions in subcortical-cortical circuit. However, the dynamics and the causal relationship among these interactions were less studied. Using resting-state functional magnetic resonance imaging (fMRI) data, the abnormal connections in the subcortical-cortical pathway in IGE were examined. Then, we proposed a novel method of granger causal analysis based on the dynamic functional connectivity, and the predictive effects among these abnormal connections were calculated. The results showed that the thalamus, and precuneus were key regions representing abnormal functional network connectivity (FNC) in the subcortical-cortical circuit. Moreover, the connectivity between precuneus and adjacent regions had a causal effect on the widespread dysfunction of the thalamocortical circuit. In addition, the connection between the striatum and thalamus indicated the modulation role on the cortical connection in epilepsy. These results described the causality of the widespread abnormality of the subcortical-cortical circuit in IGE in terms of the dynamics of functional connections, which provided additional evidence for understanding the potential modulation pattern of the abnormal epileptic pathway.

Alterations of Cerebral Perfusion and Functional Connectivity in Children With Idiopathic Generalized Epilepsy.

BackgroundStudies have demonstrated that adults with idiopathic generalized epilepsy (IGE) have functional abnormalities; however, the neuropathological pathogenesis differs between adults and children. This study aimed to explore alterations in the cerebral blood flow (CBF) and functional connectivity (FC) to comprehensively elucidate the neuropathological mechanisms of IGE in children.MethodsWe obtained arterial spin labeling (ASL) and resting state functional magnetic resonance imaging data of 28 children with IGE and 35 matched controls. We used ASL to determine differential CBF regions in children with IGE. A seed-based whole-brain FC analysis was performed for regions with significant CBF changes. The mean CBF and FC of brain areas with significant group differences was extracted, then its correlation with clinical variables in IGE group was analyzed by using Pearson correlation analysis.ResultsCompared to controls, children with IGE had CBF abnormalities that were mainly observed in the right middle temporal gyrus, right middle occipital gyrus (MOG), right superior frontal gyrus (SFG), left inferior frontal gyrus (IFG), and triangular part of the left IFG (IFGtriang). We observed that the FC between the left IFGtriang and calcarine fissure (CAL) and that between the right MOG and bilateral CAL were decreased in children with IGE. The CBF in the right SFG was correlated with the age at IGE onset. FC in the left IFGtriang and left CAL was correlated with the IGE duration.ConclusionThis study found that CBF and FC were altered simultaneously in the left IFGtriang and right MOG of children with IGE. The combination of CBF and FC may provide additional information and insight regarding the pathophysiology of IGE from neuronal and vascular integration perspectives.

Typical absence status epilepticus in older people: syndromic delineation.

Objective We describe the clinical, electroencephalograph^ and neuroimaging findings of older patients with typical absence status epilepticus (ASE). Methods This investigation was a retrospective analysis of prospectively collected consecutive patients between January 2011 and October 2021. All patients ≥60 years with impairment of awareness and continuous generalized, rhythmic, synchronous and symmetric epileptiform discharges and normal background on video-electroencephalogram (vEEG) were included. Results Six patients were identified with a diagnosis of typical ASE. The mean age was 67 years. Five could be classified as idiopathic generalized epilepsy (IGE) though two had been erroneously categorized as cryptogenic focal epilepsy (FE). In one, the episode of ASE was thought to represent the beginning of late-onset IGE (de novo late-onset typical ASE). In all cases, ASE was controlled within the first 24 hours. Significance Typical ASE is a rare cause of confusion in the elderly population requiring urgent vEEG evaluation. It most frequently represents reactivation of a previous IGE, in effect related to patients with epilepsy with onset in childhood or adolescence, not previously diagnosed or treated, representing rather the debut of (de novo) late-onset IGE.

Multimodal connectome biomarkers of cognitive and affective dysfunction in the common epilepsies.

Epilepsy is one of the most common chronic neurological conditions, traditionally defined as a disorder of recurrent seizures. Cognitive and affective dysfunction are increasingly recognized as core disease dimensions and can affect patient well-being, sometimes more than the seizures themselves. Connectome-based approaches hold immense promise for revealing mechanisms that contribute to dysfunction and to identify biomarkers. Our review discusses emerging multimodal neuroimaging and connectomics studies that highlight network substrates of cognitive/affective dysfunction in the common epilepsies. We first discuss work in drug-resistant epilepsy syndromes, that is, temporal lobe epilepsy, related to mesiotemporal sclerosis (TLE), and extratemporal epilepsy (ETE), related to malformations of cortical development. While these are traditionally conceptualized as ‘focal’ epilepsies, many patients present with broad structural and functional anomalies. Moreover, the extent of distributed changes contributes to difficulties in multiple cognitive domains as well as affective-behavioral challenges. We also review work in idiopathic generalized epilepsy (IGE), a subset of generalized epilepsy syndromes that involve subcortico-cortical circuits. Overall, neuroimaging and network neuroscience studies point to both shared and syndrome-specific connectome signatures of dysfunction across TLE, ETE, and IGE. Lastly, we point to current gaps in the literature and formulate recommendations for future research.

Validation of Pediatric Idiopathic Generalized Epilepsy Diagnoses from the Danish National Patient Register During 1994‒2019.

ObjectiveTo identify pediatric idiopathic generalized epilepsy (IGE) during 1994–2019 using ICD-10 codes in the Danish National Patient Register and anti-seizure prescriptions in the Danish Prescription Database.Study Design and SettingWe reviewed the medical records in children with ICD-10 codes for IGE before 18 years of age, and pediatric neurologists confirmed that the International League Against Epilepsy criteria were met. We estimated positive predictive values (PPV) and sensitivity for ICD-10 alone, including combinations of codes, anti-seizure prescription, and age at first code registration using medical record-validated diagnoses as gold standard.ResultsWe validated the medical record in 969 children with an ICD-10 code of IGE, and 431 children had IGE (115 childhood absence epilepsy, 97 juvenile absence epilepsy, 192 juvenile myoclonic epilepsy, 27 generalized tonic-clonic seizures alone). By combining ICD-10 codes with antiseizure prescription and age at epilepsy code registration, we found a PPV for childhood absence epilepsy at 44% (95% confidence interval [CI]=34%‒54%) and for juvenile absence epilepsy at 44% (95% CI=36%–52%). However, ethosuximide prescription, age at ethosuximide code registration before age 8 years and a combination of ICD-10 codes yielded a PPV of 59% (95% CI=42%‒75%) for childhood absence epilepsy but the sensitivity was only 17% (20/115 children identified). For juvenile myoclonic epilepsy the highest PPV was 68% (95% CI=62%‒74%) using the code G40.3F plus antiseizure prescription and age at epilepsy code registration after age 8 years, with sensitivity of 85% (164/192 children identified). For generalized tonic-clonic seizures alone the highest PPV was 31% (95% CI=15%‒51%) using G40.3G during 2006–2019 plus antiseizure prescription and age at code registration after age 5 years.ConclusionThe Danish National Patient Register and the Danish Prescription Database are not suitable for identifying children with IGE subtypes, except for juvenile myoclonic epilepsy which can be identified with caution.

Generalized Fast Discharges Along the Genetic Generalized Epilepsy Spectrum: Clinical and Prognostic Significance.

ObjectiveTo investigate the electroclinical characteristics and the prognostic impact of generalized fast discharges in a large cohort of genetic generalized epilepsy (GGE) patients studied with 24-h prolonged ambulatory electroencephalography (paEEG).MethodsThis retrospective multicenter cohort study included 202 GGE patients. The occurrence of generalized paroxysmal fast activity (GPFA) and generalized polyspike train (GPT) was reviewed. GGE patients were classified as having idiopathic generalized epilepsy (IGE) or another GGE syndrome (namely perioral myoclonia with absences, eyelid myoclonia with absences, epilepsy with myoclonic absences, generalized epilepsy with febrile seizures plus, or GGE without a specific epilepsy syndrome) according to recent classification proposals.ResultsGPFA/GPT was found in overall 25 (12.4%) patients, though it was significantly less frequent in IGE compared with other GGE syndromes (9.3 vs. 25%, p = 0.007). GPFA/GPT was found independently of seizure type experienced during history, the presence of mild intellectual disability/borderline intellectual functioning, or EEG features. At multivariable analysis, GPFA/GPT was significantly associated with drug resistance (p = 0.04) and with a higher number of antiseizure medications (ASMs) at the time of paEEG (p < 0.001) and at the last medical observation (p < 0.001). Similarly, GPFA/GPT, frequent/abundant generalized spike-wave discharges during sleep, and a higher number of seizure types during history were the only factors independently associated with a lower chance of achieving 2-year seizure remission at the last medical observation. Additionally, a greater number of GPFA/GPT discharges significantly discriminated between patients who achieved 2-year seizure remission at the last medical observation and those who did not (area under the curve = 0.77, 95% confidence interval 0.57–0.97, p = 0.02)ConclusionWe found that generalized fast discharges were more common than expected in GGE patients when considering the entire GGE spectrum. In addition, our study highlighted that GPFA/GPT could be found along the entire GGE continuum, though their occurrence was more common in less benign GGE syndromes. Finally, we confirmed that GPFA/GPT was associated with difficult-to-treat GGE, as evidenced by the multivariable analysis and the higher ASM load during history.

Rational therapy with lamotrigine or levetiracetam: Which one to select?

The aim of the current study was to investigate the seizure outcome and also factors associated with that in patients with epilepsy [i.e., idiopathic generalized epilepsies (IGEs), symptomatic generalized epilepsies (SGEs), and focal epilepsies], who received either lamotrigine (LTG) or levetiracetam (LEV). This was a retrospective longitudinal study. All patients with a diagnosis of IGE, focal epilepsy, or SGE, who received either LTG or LEV, were recruited at the outpatient epilepsy clinic at Shiraz University of Medical Sciences, Shiraz, Iran from 2008 until 2020. All patients had to be followed at our center for at least 14 months. Two hundred and thirty-six patients were studied (101 IGE, 98 focal epilepsy, and 37 SGE). At the first visit, LTG was prescribed for 159 patients; 40 people (25.2%) became seizure-free, and LEV was prescribed for 77 people; 23 persons (29.9%) became seizure-free (p = 0.438). Patients who were not taking any drug at the time of their first visit, or were receiving fewer drugs, and those who had received fewer drugs in their drug history were more likely to enjoy a seizure-free state at the follow-up. Among the patients, who received LTG at the first visit, taking any Na-channel blocking drug (e.g., carbamazepine) in the drug history was associated with a poor seizure outcome; this was not the case for LEV. Implementation of appropriate personalized treatment plans in patients with epilepsy is of paramount significance. Rational selection of appropriate drug(s) is the mainstay of this process.

Responsive neurostimulation of the thalamus improves seizure control in idiopathic generalised epilepsy: initial case series

ObjectivesUp to 40% of patients with idiopathic generalised epilepsy (IGE) are drug resistant and potentially could benefit from intracranial neuromodulation of the seizure circuit. We present outcomes following 2 years...

Definition of drug-resistant epilepsy: A reappraisal based on epilepsy types.

To re-assess the definition of drug-resistant epilepsy based on the evidence from a large-scale, long-term study including both adults and children. We categorized the patients as idiopathic generalized epilepsies (IGEs), focal epilepsies, or structural-metabolic-genetic generalized epilepsies [symptomatic generalized epilepsies (SGEs)] and provided the definition of drug-resistance based on the epilepsy types of the patients. This was a longitudinal study of a prospectively developed and maintained database. All patients with an electro-clinical diagnosis of IGE, focal epilepsy, or SGE, who received treatment from 2008 to 2021, were recruited at the outpatient epilepsy clinic at Shiraz University of Medical Sciences, Shiraz, Iran. All patients had to be followed at our center for at least 24months. The receiver operating characteristic curve (ROC curve) was used for the statistical analysis. The included patients were as follows: 523 with focal epilepsy, 218 with IGE, and 211 with SGE. For all epilepsy types, the ROC curves of the number of appropriately prescribed antiseizure medications (ASMs) were acceptable indicators to anticipate drug-resistance. The best cutoff point for focal epilepsies was at 4 ASMs (sensitivity: 0.56, specificity: 0.81); for IGE, at 3 ASMs (sensitivity: 0.51, specificity: 0.80); and for SGEs, at 4 ASMs (sensitivity: 0.78, specificity: 0.58). The definition of drug-resistant epilepsy should be different in various epilepsy types. It is the time for the scientific community to reappraise the definition of drug-resistant epilepsy in the light of the new evidence that has become available in the past 11years since the previously published definition.

Assessing efficacy and tolerability of lamotrigine (Sazar®) in therapy of female idiopathic generalized epilepsy: a multicenter study

Background. Idiopathic generalized epilepsy (IGE) comprises 15–20% among all types of epilepsy. However, specifics of administration for lamotrigine in IGE in the Russian Federation remain poorly investigated, especially in female subjects.Objective: to assess efficacy and potential adverse events (AEs) in girls and females with preserved childbearing potential and verified IGE upon initial treatment with lamotrigine, upon switching to lamotrigine from a first-antiepileptic drug (AED) that provided no full seizure control and/or was coupled to AEs, as well as while introducing lamotrigine as an adjunctive therapy in case a monotherapy achieved no therapeutic efficacy.Material and methods. There were enrolled 54 female patients aged 4 to 40 years (mean age 19.3 years, median 11 years). After verifying IGE, patients received a monotherapy with lamotrigine. In case a patient received a first monotherapy course, but achieved no full seizure control and/or was coupled to AEs due to administered AED, lamotrigine was prescribed as a second AED followed by a potential for further switch to a second monotherapy.Results. It was found that a first monotherapy resulted in the maximum remission rate in patients with isolated generalized tonic-clonic seizures. Lamotrigine efficiently suppressed EEG epiactivity, with observed EEG-remission in 8 out of 16 (50%) patients. While being administered as a second monotherapy, lamotrigine resulted in remission in 87.5% patients. A combination therapy with lamotrigine was required in 22 cases. Most commonly, it was combined with levetiracetam (15 patients). While administering a dual therapy with lamotrigine, remission was observed in 9 patients receiving basal therapy with this drug, as well as 3 and 1 patients receiving valproic acid and topiramate, respectively. Six more patients were observed to demonstrate more than 50% improvement (5 subjects in levetiracetam group and 1 in ethosuximide group).Conclusions. The study demonstrated high efficacy of administered lamotrigine as a first monotherapy as well as a second monotherapy and a combination therapy in girls, adolescent girls and females with IGE. Lamotrigine resulted in no serious AEs that might lead to its cancellation.

Current Concepts in the Management of Idiopathic Generalized Epilepsies.

Idiopathic generalized epilepsies (IGEs) are a group of epilepsies characterized by an underlying genetic predisposition and a good response to antiseizure medicines (ASMs) in the majority of the patients. Of the various broad-spectrum ASMs, valproate is the most effective medicine for the control of seizures in IGEs. However, with the availability of many newer ASMs and evidence showing the high teratogenic potential of valproate, the choice of ASMs for IGEs has become increasingly difficult, especially in women of the child-bearing age group. In this article, we review the current evidence regarding the efficacy and safety of various ASMs in patients with IGEs and provide practical guidelines for choosing appropriate ASMs in various subgroups of patients with IGEs.

Digital Neuropsychological Assessment of Cognitive Functions in Patients with Epilepsy.

Cognitive impairment often occurs secondary to epilepsy. This study aims to evaluate the cognitive functions of patients with idiopathic generalized epilepsy (IGE) by using the digital neuropsychological assessment. Seventy-nine patients diagnosed with IGE in the last 10 years in our clinic, who completed at least eight years of education were recruited. Participants who met the criteria were 36 individuals with IGE syndrome as well as 36 healthy individuals between the ages of 18-48. All volunteer participants were administered the standardized mini mental test (SMMT) and the Beck depression scale (BDS). For the neurocognitive assessment, participants completed five tasks in TestMyBrain digital neuropsychology test battery (TMB) which are TMB digit span, TMB choice reaction time test, TMB visual paired associates test, TMB matrix reasoning, and TMB digit symbol matching assessing a variety of cognitive domains. IGE patients showed lower cognitive performance in attention, short-term memory, working memory, visual memory, episodic memory, cognitive processing speed, response selection/inhibition, fluid cognitive ability, and perceptual reasoning domains. The results show that IGE patients have cognitive dysfunction in many cognitive domains. IGE patients performed significantly worse outcomes in some tests of the TMB. In this study, it is aimed to emphasize the necessity of evaluating the cognitive aspects of epilepsy patients, which will be of great importance in their functionality, in addition to providing symptomatic treatment in order to control their seizures.

Voxel-wise Functional Connectivity of the Default Mode Network in Epilepsies: A Systematic Review and Meta-Analysis.

Background:Default Mode Network (DMN) is recognized to be involved in the generation and propagation of epileptic activities in various epilepsies. Converging evidence has suggested disturbed Functional Connectivity (FC) in epilepsies, which was inferred to be related to underlying pathological mechanisms. However, abnormal changes of FC in DMN revealed by different studies are controversial, which obscures the role of DMN in distinct epilepsies.Objective:The present work aims to investigate the voxel-wise FC in DMN across epilepsies.Methods:A systematic review was conducted on 22 published articles before October 2020, indexed in PubMed and Web of Science. A meta-analysis with a random-effect model was performed using the effect-size signed differential mapping approach. Subgroup analyses were performed in three groups: Idiopathic Generalized Epilepsy (IGE), mixed Temporal Lobe Epilepsy (TLE), and mixed Focal Epilepsy (FE) with different foci.Results:The meta-analysis suggested commonly decreased FC in mesial prefrontal cortices across different epilepsies. Additionally decreased FC in posterior DMN was observed in IGE. The TLE showed decreased FC in temporal lobe regions and increased FC in the dorsal posterior cingulate cortex. Interestingly, an opposite finding in the ventral and dorsal middle frontal gyrus was observed in TLE. The FE demonstrated increased FC in the cuneus.

Leu226Trp CACNA1A variant associated with juvenile myoclonic epilepsy with and without intellectual disability

ObjectiveEpilepsy is a disease of Central Nervous System (CNS) characterized by abnormal brain activity and recurrent seizures and is considered a clinically and genetically heterogeneous disease. Here, we investigated pathogenic genetic alteration and described the clinical characteristics of three Iranian family members affected by Idiopathic Generalized Epilepsy (IGE) with and without intellectual disability. MethodsA non-consanguineous Iranian family with juvenile myoclonic epilepsy was enrolled in the study. The comprehensive neurological evaluation included motor and sensory skills, vision, hearing, speech, coordination, and mood. Whole-exome Sequencing (WES) was performed on the proband to detect probable pathogenic variant, and after the filtering process, probable variants were evaluated with familial segregation analysis using Sanger sequencing. ResultsUsing WES, we identified a heterozygous missense substitution (NM_023035.3:c.T677G:p.Leu226Trp) in CACNA1A gene in the studied family with juvenile myoclonic epilepsy with and without intellectual disability and psychiatric phenotype. Considering the patients’ clinical synopsis, familial segregation analysis, and literature review, we postulated this variant to be causative of the disease. Indeed, the resulting missense mutation of Leu226Trp affects a highly conserved residue supporting our hypothesis that this mutation is potentially pathogenic. ConclusionTo the best of our knowledge, this is the first report of juvenile myoclonic epilepsy related to CACNA1A gene. Our results provide evidence for expanding the clinical and molecular findings related to the CACNA1A gene.

Treatment outcomes in women with idiopathic generalized epilepsy.

ObjectivesTo evaluate the changes in prescription patterns in the treatment of idiopathic generalized epilepsy (IGE) due to updated treatment recommendations and to assess seizure outcomes of valproate compared to other antiseizure medications (ASMs), with emphasis on women with epilepsy (WWE).Materials and MethodsRecords of IGE patients treated at Tampere University Hospital between 1 January 2009 and 31 December 2018 were retrospectively inspected. Data were analysed for two subgroups based on age and sex. Seizure control with reference to the efficacy of different ASMs and their combinations was examined for each subgroup.ResultsThe study compiled 263 subjects (166 females and 97 males). Of all patients, 72.6% remained seizure free. There was no difference in seizure control between sexes (OR 1.25, p = .48). Males used valproate more often than females while females used lamotrigine and levetiracetam more often than males. Lamotrigine and levetiracetam were used especially as monotherapy in WWE, and mostly as part of combination therapy in males. Valproate alternatives were found as effective as valproate when used in monotherapy in adults. Valproate remained the most used ASM in the paediatric subgroup.ConclusionsThe use of valproate has decreased in daily clinical use with the simultaneous increased use of alternative ASMs compared to our previous study. Decreasing use of valproate in WWE did not increase the risk of seizure recurrence; therefore, valproate alternatives could be considered as first‐line ASMs for WWE. Overall, IGE patients demonstrated good clinical outcomes with valproate or other broad‐spectrum ASMs as monotherapy.

Interictal autonomic dysfunction in patients with epilepsy

BackgroundAutonomic nervous system (ANS) symptoms are frequently present in people with epilepsy (PwE). They are generally more prominent when they originate from the temporal lobe. We aim to investigate the alterations of autonomic functions during the interictal period in patient with temporal lobe epilepsy (TLE) and idiopathic generalized epilepsy (IGE) using heart-based tests, blood pressure (BP)-based tests and sympathetic skin response (SSR). Forty-eight PwE with disease duration ranging from 2 to 15 years and 51 healthy individuals were studied. Long-term electroencephalography (EEG) monitoring, the heart rate variability (HRV) during normal breathing, deep breathing, Valsalva maneuver and standing, BP responses during standing, to isometric hand grip and to mental arithmetic, and the SSR was recorded for all participants.Results31 patients with TLE and 17 with IGE showed lower RR-IV values during deep breathing, Valsalva maneuver and standing, but not during rest, impaired BP responses during standing, isometric hand grip, and mental arithmetic. Also, prolonged SSR latencies. Within PwE group, no difference was noticed between males and females, nor between the left and right temporal lobes.ConclusionAbnormal autonomic (sympathetic and parasympathetic) regulatory functions suggest that epilepsy may alter the autonomic function and this is not only in TLE but rather in IGE too. These autonomic changes are irrespective of the localization of epilepsy between the two hemispheres. The ANS changes in epileptic patients, particularly those with autonomic symptoms, confirm that electrophysiologic measures of autonomic function may be of value in preventing sudden unexpected death in epilepsy.

Abnormalities of Cerebral White Matter Microstructure in Children With New-Onset, Untreated Idiopathic-Generalized Epilepsy.

Despite evidence for microstructural brain alterations in epilepsy patients, little is known about how these develop with age and the progress of the disease. The aim of this study was to investigate microstructural abnormalities of the white matter (WM) in children with new-onset, untreated idiopathic-generalized epilepsy (IGE) using the MRI technique of diffusion tensor imaging (DTI). The study was approved by the institutional review board, and all individuals or their parents gave signed informed consent. In total, 45 patients with IGE (age 5–18 years, male: female 26:19) and 32 healthy controls (HCs; age 5–18 years, male: female 21:11) were included. Voxel-based analysis (VBA) was used to compare patients and controls, and Pearson correlation analysis was used to investigate relationships between altered DTI metrics and clinical parameters. Compared with controls, patients with IGE showed increased mean diffusivity (MD) in the left splenium of the corpus callosum, increased fractional anisotropy (FA) in the right WM of the superior and middle frontal gyri, increased axial diffusivity (AD) in the WM of right corona radiata and left occipital lobe, and decreased AD in the WM of the left thalamus and the right middle cerebellar peduncle. There was no correlation between the altered diffusion parameters and clinical measures. Our study demonstrated several distinct microstructural impairments in children with new-onset, untreated IGE, of which altered AD might be the most sensitive marker of dysmyelination. The increased FA in the IGE group might suggest an initiating or compensatory mechanism that is activated prior to cognitive decline in these children.

High rates of early remission pattern in adult-onset compared with earlier-onset idiopathic generalized epilepsy: A long-term follow-up study

ObjectiveTo investigate electroclinical characteristics and prognostic patterns of adult-onset vs. younger-onset idiopathic generalized epilepsy (IGE) patients during long-term follow-up. MethodsIn this single-center retrospective cohort comparative study, adult-onset IGE was defined as onset after 20 years of age. Patients with a follow-up duration between 10 and 30 years from epilepsy diagnosis were enrolled. Maximum follow-up duration was limited to 30 years to ensure a better comparison of prognostic data between adult-onset and younger-onset patients. The Benjamini-Hochberg false discovery rate (FDR) method was applied to obtain FDR-adjusted p-values. ResultsA total of 177 IGE patients were recruited and 27 adult-onset IGE patients were identified (15.3%). Follow-up duration was similar between younger- and adult-onset IGE patients and 74% of subjects performed at least one 24-hour EEG recording. Of adult-onset IGE patients, 8/27 were diagnosed with juvenile myoclonic epilepsy, while 19/27 were diagnosed with generalized tonic-clonic seizures (GTCS) only. EEG photosensitivity and absence seizures were significantly less frequent among adult-onset IGE patients as compared with younger subjects. When considering prognostic patterns, an early remission pattern was significantly higher among adult-onset IGE patients as compared with younger-onset IGE patients (55.6% vs. 24%, adjusted p value = 0.007). Antiseizure medication withdrawal was attempted in 3/27 adult-onset patients, and all had GTCS relapses. ConclusionOur study contributes to better defining the electroclinical characteristics and long-term follow-up of adult-onset IGE patients. A favorable long-term seizure outcome was found in adult-onset IGE patients, as evidenced by the high rates of early remission pattern when compared with younger onset patients.