Acta Epileptologica最新文献

Background: Sialidosis is an autosomal recessive hereditary disease characterized by the mutation of neuraminidase-1 (NEU1) gene, resulting in decreased activity of α-N-acetylneuraminidase. This leads to metabolic abnormalities in various organs. Sialidosis is classified into two distinct clinical phenotypes, type I and type II, based on the age of onset and severity of clinical manifestations.

Case presentation: Here, we report a case involving a patient and his two sisters, all of whom showed seizures and ataxia during adolescence, with progressively worsening symptoms. Prior to admission, none of the patients had received a systemic diagnosis or treatment. The whole exome sequencing identified a homozygous NEU1 mutation (NM_000434.3:c.544A > G [p.Ser182Gly]) in all three siblings. Their parents and children, who were asymptomatic, were found to be heterozygous carriers. The three patients were ultimately diagnosed with type I sialidosis and treated with antiseizure medications, but they continued to experience recurrent seizures.

Conclusions: This case report enhances our understanding of sialidosis, particularly in patients presenting with seizures and ataxia. Furthermore, the gene sequencing is a crucial tool for confirming the diagnosis of sialidosis and provides a valuable approach for genetic counseling in affected families.

Background: Unverricht-Lundborg disease (ULD) is a rare autosomal recessive neurodegenerative disorder, often caused by biallelic promoter expansions of CSTB gene or, more rarely by point/indel variants. The best-known area for ULD are the shores of the Baltic and Mediterranean Sea and few cases have been recorded from Asia.

Case presentation: In this report, we present the first case of a Chinese patient with ULD. The patient was a 21-year-old female with normal cognitive function. She developed nocturnal bilateral tonic-clonic seizures (BTCS) at age 8, with subsequent onset of myoclonic jerks along with ataxia at age 12. Myoclonic jerks were triggered by flashing lights and during menstrual periods. EEG recording showed multifocal spikes and sharp-waves, predominantly in bilateral occipital regions. Genetic testing revealed heterozygous compound variants for a novel indel variant (c.116 - 117 delAG) and the repeat expansion of CSTB gene. The refractory BTCS and myoclonic jerks showed remarkable response to low-dose (2 mg/day) perampanel treatment. After 24 months of follow-up, the patient remained seizure-free, but her myoclonic jerks recurred, which could be reduced by increasing the dosage of perampanel.

Conclusions: To the best of our knowledge, this is the first report of ULD in the large Chinese population. By comparison with homozygous promoter expansions, we found an earlier age of first symptom onset and more refractory BTCS of ULD patients with compound or homozygous point/indel variants.

Background: Epilepsy is a chronic neurological disorder marked by a persistent tendency to generate seizures, leading to substantial cognitive, behavioral, and psychosocial consequences. This study investigated psychiatric disorder-related adverse events (AEs) associated with antiseizure medications (ASMs) in children using the Food and Drug Administration Adverse Event Reporting System (FAERS) database.

Methods: This study conducted a comprehensive analysis of FAERS data from 2004 to 2024, focusing on psychiatric AEs in children with epilepsy or seizures treated with ASMs. Signal values were computed using reporting odds ratio (ROR), proportional reporting ratio (PRR), Bayesian Confidence Propagation Neural Network (BCPNN), and Multi-item Gamma Poisson Shrinker (MGPS).

Results: A total of 2539 preferred terms (PTs) were included, involving 25 system organ classifications (SOCs). Nervous system, skin and subcutaneous tissue, and psychiatric disorders are the three most common SOCs for ASMs in children. There were 24 ASMs, whose AEs involved psychiatric disorders, totaling 110 PTs and 214 drug-PT relationships. Psychotic symptoms (notably lorazepam and topiramate, n = 116 and 109), substance dependence and abuse (notably pregabalin and clonazepam, n = 291 and 110), and the other neuropsychiatric symptoms (notably levetiracetam and valproic acid, n = 70 and 62) were the common types of psychiatric disorder-related AEs of ASMs in children. A total of nine ASMs (brivaracetam, clonazepam, diazepam, eslicarbazepine, gabapentin, lamotrigine, lorazepam, perampanel, and tiagabine) were associated with suicidal and self-injurious behavior in children.

Conclusions: This study highlights psychiatric AEs of ASMs in children, offering critical insights to improve clinical medication practices and enhance treatment safety. Further research with broader clinical data is needed to promote safe and rational medication use.

Background: Cognitive impairment represents a major comorbidity among older adults with epilepsy. This study aimed to explore the association between the apolipoprotein E (APOE) ε4 allele and cognitive function in older people with epilepsy.

Methods: People with epilepsy aged ≥ 50 years were enrolled at an outpatient clinic of epilepsy from November 2019 to July 2024. Blood samples were collected for APOE genotyping. Participants were categorized into two groups based on the presence of the APOE ε4 allele: APOE ε4 (+/-). Cognitive function was assessed using a battery with neuropsychological tests. Based on Mini-Mental State Examination (MMSE) scores, participants were defined as unimpaired cognition (UC) (MMSE ≥ 27) and cognitive impairment (CI) (MMSE < 27). Seizure frequency was categorized into low (≤ 3/year) and high (> 3/year) groups. Multivariate logistic regression analysis and general linear models were employed to identify factors associated with cognitive function.

Results: Among 110 participants, 51 (46.4%) were defined as CI. Compared with UC group, the CI group was older (65.1 ± 7.6 vs 60.8 ± 6.8 years, P = 0.002), with lower educational level (9.0 [7.0, 11.0] vs 12.0 [9.0, 13.0] years, P < 0.001), and higher seizure frequency (12.0 [1.0, 24.0] vs 1.0 [0.0, 12.0] times/year, P = 0.005). High seizure frequency (OR = 3.94, 95% CI [1.34, 11.61], P = 0.013) and more APOE ε4 alleles (OR = 3.28, 95% CI [1.09, 9.83], P = 0.034) were risk factors for CI. An interactive effect between the number of APOE ε4 alleles and seizure frequency was observed (P = 0.002). Compared to participants with APOE ε4 (-) and low seizure frequency, those with APOE ε4 (-) and high seizure frequency showed a threefold risk of CI (OR = 3.34, 95% CI [0.99, 11.25], P = 0.051), while those with APOE ε4 (+) and high frequency demonstrated the highest risk of CI (OR = 10.53, 95% CI [1.75, 63.47], P = 0.010).

Conclusions: The synergistic effect of APOE ε4 allele and seizure frequency on cognitive function suggested their importance in clinical assessments and therapeutic approaches in managing older people with epilepsy.

Epilepsy with myoclonic absence (EMA) is a rare childhood-onset generalized epilepsy syndrome characterized by myoclonic absence seizures. First discovered by Tassinari et al. in 1969, EMA has been extensively studied by researchers from all over the world. This review synthesizes recent studies on EMA, covering its discovery history, classification, epidemiology, pathophysiology, etiology, clinical manifestations, diagnosis and differential diagnosis, treatment, prognosis and evolution, and especially discusses the etiology and pathophysiology mechanism, to help clinicians understand this relatively rare epilepsy syndrome, reduce the rate of missed diagnosis and misdiagnosis, and effectively guide treatment to alleviate the long-term cognitive impairment in affected individuals.

Background: Drug-resistant epilepsy (DRE) exerts substantial clinical, humanistic and economic burdens on patients, their families and the healthcare system. Vagus nerve stimulation (VNS) has been extensively tested in clinical trial settings to decrease the frequency of seizures in patients with DRE who are not candidates for surgery; the results indicate promising efficacy and a well-tolerated safety profile. However, real-world evidence is still lacking. This retrospective study evaluated the safety and efficacy of VNS in patients with DRE.

Methods: The current study was a retrospective chart review of the medical records of children and adults with DRE treated with VNS between December 2006 and November 2022. The primary outcome of the present study was the percentage of patients who experienced a reduction in seizure frequency of more than 50% compared with the frequency at baseline (the period before VNS device insertion).

Results: A total of 103 patients were included. The percentage of patients who achieved a reduction of more than 50% in seizure frequency was 23% at six months, 36% at 12 months, 65% at 18 months, and 72% at 24 months. Similarly, the percentage of patients with complete resolution of interictal epileptiform discharges (IEDs) increased from 30% at six months to 60% after 24 months. The overall Quality of Life in Epilepsy (QOLIE-31) score at the end of follow-up was 39.46 ± 13.68 points. Two patients (1.9%) reported experiencing side effects at the end of follow-up.

Conclusions: VNS implementation led to a significant reduction in the seizure frequency and resolution of IEDs, with a well-tolerated safety profile. The findings highlight the potential role of VNS in managing DRE and warrant its consideration for treating patients with DRE.

Background: Late adverse reactions associated with the combined therapy of valproate and lamotrigine are infrequently documented within the Chinese population.

Case presentation: This case report describes a 54-year-old female patient who developed adverse reactions following long-term therapy with valproate and lamotrigine, with symptoms emerging five months after the final adjustment of her antiseizure regimen. The patient presented with symptoms of dizziness, ataxia, nystagmus, and postural tremors. Following blood drug concentration monitoring and subsequent minor dosage adjustments to the antiseizure regimen without medication withdrawal, the patient's symptoms were successfully resolved.

Conclusions: This article underscores the importance of vigilance among clinicians regarding the potential for late adverse reactions and advocates for the proactive monitoring of blood drug concentrations.

Background: Idiopathic generalized epilepsies (IGEs) are the most common syndromes within the "genetic generalized epilepsies" (GGEs). Patients with IGE often exhibit cognitive comorbidities. The primary objective of this study is to investigate the correlation between brain parenchymal sonography characteristics and cognitive impairment in IGE.

Methods: This study enrolled 26 patients with IGE and 26 age- and sex-matched controls. All participants underwent comprehensive evaluations including clinical examination, electroencephalography, magnetic resonance imaging epilepsy protocol, transcranial sonography (TCS) for third and lateral ventricular diameter measurements, and cognitive assessment using the Addenbrooke's Cognitive Examination-III (ACE III).

Results: This study found significantly lower scores in attention, memory, fluency, and total score of ACE-III in IGE patients compared to the control group (P-value = 0.011, 0.033, 0.007, and 0.001, respectively). However, no significant differences were observed between IGE patients and the control group in language and visuospatial score (P = 0.479 and 0.108, respectively). The average diameters of the third ventricle and lateral ventricle anterior horns were significantly larger in patients than in the control group (P-value 0.004, 0.009, and 0.012, respectively).

Conclusions: IGE patients exhibit significant cognitive impairment and notable dilatation of the third ventricle and lateral ventricles horns, which may serve as markers of brain atrophy.

Epilepsy is a prevalent paroxysmal disorder in the field of neurology. Among the six etiologies of epilepsy, metabolic causes are relatively uncommon in clinical practice. Metabolic disorders encompass amino acid metabolism disorders, organic acid metabolism disorders, and other related conditions. Seizures resulting from nucleic acid/nucleotide metabolism disorders are even more infrequent. This review provides an overview of several studies on nucleic acid/nucleotide metabolism disorders associated with epilepsy, including adenosine succinate lyase deficiency, Lesch-Nyhan syndrome, and aminoimidazole carboxamide ribonucleotide transformylase/inosine monophosphate cyclohydrolase (ATIC) deficiency, among others. The potential pathogenesis, phenotypic features, diagnostic pathways, and therapeutic approaches of these diseases are discussed in this review. The goal is to help clinicians make an accurate diagnosis when encountering rare nucleic acid/nucleotide metabolism disorders with multi-system symptoms and manifestations of epilepsy.