Epileptic Disorders最新文献

Objective: To investigate the prevalence, comorbidities, and 13-year mortality of epilepsy among older community-dwelling adults.

Methods: A prospective cohort with 3515 participants aged ≥50 years from the Shanghai Aging Study was followed up from 2010 to 2023. Participants were interviewed to obtain demographic and medical history, and were subjected to neurologic examinations. Epilepsy cases at baseline were determined with either diagnosis by a neurologist or anti-seizure medication prescriptions confirmed by medical records. Deaths were confirmed by the local mortality surveillance system.

Results: Twenty-six participants were determined to be people with epilepsy, indicating the prevalence rate of 7.40/1000 (95% CI 4.84, 10.82). People with epilepsy had a significantly higher chance of comorbidity with chronic obstructive pulmonary disease (COPD) (OR = 15.89, 95% CI 1.88, 133.98), depression (OR = 14.22, 95% CI 5.99, 33.73), and dementia (OR = 4.65, 95% CI 1.28, 16.89) compared to people without epilepsy. The overall mortality rate was 27.74/1000 person-years (95%CI 12.21, 53.97) in people with epilepsy and 26.32 (95% CI 24.75, 27.97) in people without epilepsy. Women aged 60-69 years exhibited a high mortality ratio of 5.84 (95% CI 1.58, 21.64) compared to those without epilepsy within the same age group. The top three causes of death in people with and without epilepsy were similar. COPD was significantly associated with increased mortality risk in people with epilepsy (HR = 22.68; 95% CI 1.30, 396.70), but not in those without epilepsy. People with epilepsy and COPD had a higher risk of mortality than those without epilepsy and COPD (HR = 12.58, 95% CI 1.76, 89.68).

Significance: Our study presented an epidemiological profile of epilepsy in an older community cohort and suggested a potential burden of neuropsychiatric and respiratory comorbidities, which needs further validation.

Background: Migraine and epilepsy are distinct neurological disorders that co-occur as comorbid conditions as well. Despite their clinical differences, these disorders exhibit some overlapping symptoms and share underlying pathophysiological mechanisms driven by a common genetic contribution.

Aim: The current study aimed to explore the genetic predisposition associated with epilepsy, migraine, and their comorbidity in both familial and sporadic cases.

Methods: Whole exome sequencing carried out in 191 individuals, comprising familial and sporadic cases diagnosed with migraine (n = 63), epilepsy (n = 62), and comorbid (n = 39) involving unaffected first-degree relatives (n = 16) and healthy controls (n = 11). Variant interpretation was performed in accordance with the American College of Medical Genetics and Genomics (ACMG) guidelines. Segregation analysis was carried out by Sanger sequencing.

Results: Clinically relevant pathogenic and likely pathogenic variants were observed in the genes associated with ion channel functioning and neurotransmitter regulation in migraine as well as in epilepsy. Apart from these, variations in other genes regulating glucose transport, synaptic organization and signaling were also identified. In the epilepsy group, variants were detected in sodium channel genes (SCN1A, SCN1B, SCN2A), G protein-coupled receptor (ADGRV1), GLUT-1, and GABA transporters (SLC2A1, SLC6A1), synaptic transporter (STXBP1), and others (ICK, EFHC1, SETD1B, and DEPDC5). In the migraine group, genes including ion channel encoding gene (SCN9A, ATP1A2), GABA receptor-encoding gene (GABRA5) were noted. In individuals with migraine and epilepsy comorbidity alterations were observed in ion channel encoding gene (SCN1A, KCNMA1, and KIF1A) and other gene (COL4A1) highlighting that ion channel genes are common genetic markers shared by all three disorders.

Conclusion: The identified variants predominantly involve genes encoding sodium, potassium, and GABA receptors that result in ion channel dysfunction and neurotransmitter imbalance. These findings highlight shared molecular pathways contributing to the pathogenesis of epilepsy, migraine, and their comorbidity. The convergence of genetic factors suggests potential avenues for the development of unified therapeutic strategies.

Objective: Surgery is the treatment of choice in drug-resistant temporal lobe epilepsy (TLE). The estimated seizure freedom after anterior temporal lobectomy and amygdalo-hippocampectomy (ATL-AH) is 70%-80%. Accurate identification of the epileptogenic zone by prompt presurgical evaluation reduces surgical failures. Our study aims to assess the utility of intraoperative electrocorticography (iECoG) in improving seizure outcomes following ATL-AH.

Methods: We enrolled patients with drug-resistant TLE who underwent ATL-AH from January 2009 to December 2018. They were followed up at 3 months, 12 months and annually for assessment of seizure recurrence. Post-resection ECoG findings were classified into (1) no/rare residual epileptiform discharges and (2) less than 50% reduction in discharges. Post-operative outcome was deemed "good" if seizure-free and aura-free during the entire period of post-operative follow-up and "poor" if there is a recurrence of auras and/or seizures.

Results: Among the 684 patients enrolled, 566 had "good" outcomes and 118 had "poor" outcomes. Resection was ECoG-guided in 545 patients. Less than 50% reduction in spikes on post-resection ECoG was found in 133 patients. There was no significant difference in seizure outcomes based on ECoG guidance (p = 0.65) or clearance of spikes on post-resection ECoG (p = 0.13). iECoG was not done in 139 (20.3%) patients due to technical glitches during the procedure or due to affordability issues.

Significance: Utility of iECoG in tailoring resection margins is limited and it does not predict seizure outcome after ATL-AH. In centers where ATL-AH is ECoG-guided, it is advisable to abandon this time-consuming procedure.

Objective: Olfactory dysfunction is well documented in neurological diseases, including temporal lobe epilepsy (TLE), where it may reflect dysfunction of limbic structures integral to both olfaction and seizure generation. While olfactory auras are classically recognized, their predictive utility in the preictal period remains unexplored. This study investigates transient olfactory impairment as a time-sensitive prodromal marker preceding seizure onset in patients with TLE.

Methods: Fifteen adults with confirmed or strongly suspected TLE were prospectively enrolled during admission to the Epilepsy Monitoring Unit at King Faisal Specialist Hospital and Research Centre in 2024. Olfactory function was assessed using the University of Pennsylvania Smell Identification Test (UPSIT) at baseline and every 6-8 h until seizure onset. Logistic regression was used to evaluate the association between olfactory dysfunction and time to seizure.

Results: Seven of fifteen patients (46.7%) exhibited olfactory impairment prior to seizure onset. These patients experienced significantly shorter intervals between the last test and seizure onset (mean = 1.6 h) compared to those without impairment (mean = 4.1 h, p = 0.0145). Logistic regression revealed a significant inverse association between time and olfactory dysfunction likelihood (OR = 0.33 per hour, 95% CI: 0.09-0.73, p = 0.027), indicating olfactory impairment was more likely closer to seizure onset.

Significance: This study is the first to quantitatively link prodromal olfactory dysfunction to seizure onset in TLE, identifying it as a potentially accessible, low-cost, non-invasive biomarker. These findings suggest a novel adjunct for seizure forecasting, and support future development of olfaction-based prediction strategies. Larger scale studies are warranted to validate these results and investigate underlying mechanisms connecting olfactory circuits with ictogenesis.

All patients with drug-resistant seizures benefit from a comprehensive evaluation to confirm their seizure diagnosis and explore surgical treatment options. This seminar in epileptology discusses advancements in the field and provides specific didactic material to create an active working knowledge for the care of patients with focal drug-resistant epilepsy. The article reviews indications for a presurgical evaluation and the importance and benefits of early surgical intervention. Advancements in diagnostic techniques in the presurgical evaluation, including video-EEG monitoring, imaging, neuropsychological testing, and patient selection for invasive monitoring, are covered. An overview of common pathologies underlying surgical epilepsy syndromes and their MRI correlates is provided. A modern multimodal work-up allows individualized risk and benefit estimation and a personalized approach to surgical decision-making. The review concludes with a comprehensive discussion of postsurgical management, common complications, and rehabilitation after epilepsy surgery.

Protein ufymilation is a post-translational modification implicated in the regulation of several cellular processes. Biallelic variants in UBA5 causing a functional alteration of its protein product have been associated with early-onset epileptic encephalopathy 44 (EIEE44), a rare disease for which 28 patients have been described in the literature at present. We here report on the clinical and detailed EEG phenotype of a novel patient affected by EIEE44. At 5 months of age, she presented with psychomotor delay, failure to thrive, and postural abnormalities. At 6 months of age, the EEG showed disorganization during both wakefulness and sleep, with numerous anomalies and the recording of epileptic myoclonus during falling asleep, in the absence of significant MRI correlates. Upon follow-up after 1 month, the findings were suggestive of epileptic spasms. Valproate was then introduced, and vigabatrin was later added due to the onset of cluster episodes. Excessive drowsiness required a slow titration of the pharmacological therapy. At 2 years of age, height and weight were still below the first centile. No more drowsiness was noted, but psychomotor delay and limb hypertonia persisted. The EEG remains disorganized during both wakefulness and sleep, with the presence of numerous interictal anomalies. We suggest UBA5 to be added to the genes that are routinely tested or analyzed when early-onset epileptic encephalopathy is suspected. In the event of a genetic diagnosis of EIEE44, patients' management could benefit from state-of-the-art clinical, prognostic, and therapeutic knowledge, which, in turn, would be further refined thanks to additional phenotypic reports.

Objective: To determine the relative predictive value of the intracarotid amobarbital procedure (IAP), mesial temporal sclerosis (MTS) on magnetic resonance imaging (MRI), and positron emission tomography (PET) for long-term (3-years) seizure outcome following neurosurgery for temporal lobe epilepsy (TLE).

Methods: Data from 88 patients with TLE were analyzed. We examined demographic, clinical, and presurgical workup variables in relation to absolute seizure outcome (freedom vs. recurrence) within a three-year monitoring period following surgery. Presurgical variables were also examined as longitudinal predictors of time to seizure recurrence within the three-year postsurgical interval using univariate Cox regression models. Predictor survival curves were compared using Mantel-Cox (log-rank) tests.

Results: Side of resection, resection type (selective vs. non-selective), hemisphere of language dominance, and epilepsy duration were not associated with seizure outcome. PET and MRI were also unrelated to seizure outcome. Incorrectly lateralizing IAP was associated with higher odds of seizure recurrence (OR = 3.93, p = .018, 95% CI = 1.20, 12.94). Additionally, survival analyses indicated that incorrectly lateralized IAP was a longitudinal predictor of earlier seizure recurrence (HR = 2.84, p = .023, 95% CI = 1.15-6.98). Log-rank analyses revealed that, as opposed to those with expected IAP memory lateralization, patients with incorrect IAP lateralization experienced postsurgical seizure relapse about seven months earlier.

Significance: IAP that does not lateralize to the presumed hemisphere of seizure focus is associated with increased risk of seizure recurrence, as well as shortened time-to-seizure relapse following surgery for TLE.