Epileptic Disorders最新文献

Objective: We investigated neonatal seizures in three probands admitted to the neonatal intensive care units and their affected family members.

Methods: Whole exome sequencing (WES) was performed along with confirmation by Sanger sequencing and segregation analysis. Copy number variant (CNV) analysis was also conducted. Neuroimaging, electroencephalography, and metabolic analysis revealed clinical phenotypes.

Results: Bi-allelic variants c.1025T>C and c.1150G>A in MOCS1 were found in twin girls with molybdenum cofactor deficiency. The c.1025T>C variant was novel. A c.877C>T variant in KCNQ2 co-segregated with seizures in a family. A de novo 6.25 Mb duplication on 2q24.3 encompassing SCN1A, SCN2A, and SCN3A was identified in a proband who demonstrated normal development without seizures on follow-up.

Significance: WES facilitated the molecular diagnosis of neonatal seizures in the study participants. Variants in the KCNQ2 and MOCS1 genes were classified as likely pathogenic based on our findings. The individual with a duplication of the sodium channel gene cluster on 2q24.3 exhibited additional phenotypes. Our investigation expanded the genotype-phenotype spectrum.

Objective: Temporal lobe epilepsy (TLE) is the most prevalent form of epilepsy. Prior research has indicated the involvement of the nucleus accumbens shell (NAcSh) in the process of epileptogenesis, thereby implying its potential as a therapeutic target for TLE. In the present study, we investigated the antiepileptic effect of the NAcSh electrical lesion.

Methods: Chronic TLE was induced by stereotactic injection of kainic acid (KA) into the hippocampus 3 weeks after KA administration, and NAcSh electrical lesions were performed. Seizures in rats were monitored by video electroencephalogram (EEG) 1 week following the NAcSh electrical lesion. Besides, the spatial memory function assessment in rats was conducted using the Morris water maze (MWM) test in the final week of the experiment. Later, hippocampal glial cell activation and neuron loss in rats were evaluated through immunohistochemistry.

Results: TLE rats subjected to NAcSh electrical lesion exhibited a significant reduction in the frequency of seizures compared to untreated TLE rats. Furthermore, NAcSh electrical lesion led to less activation of hippocampal glial cells and fewer neuronal loss in TLE rats. It is worth noting that the NAcSh electrical lesion did not cause additional memory impairment.

Significance: In the present study, the NAcSh electrical lesion exhibited a definitive therapeutic effect on the chronic TLE rat model, potentially due to decreased hippocampal TLE-induced activation of glial cells and neuron loss. In conclusion, our results indicated that the NAcSh is a promising therapeutic target for TLE and possesses high potential for clinical application.

Objective: Neonatal encephalopathy (NE) is a leading cause of childhood death and disability, particularly in sub-Saharan Africa. Detection of NE-related seizures is challenging. We explored NE seizure semiology and management in Uganda.

Methods: Video-EEG was recorded (days 1-5), seizure semiology reviewed according to ILAE classification and administration of antiseizure medication (ASM) evaluated. Clinicians treated seizures based on the clinical presentation alone.

Results: Among 50 participants, 52% (26) had EEG-confirmed seizures; 70% (18) combined electroclinical/electrographic; 4% (1) exclusively electroclinical; 22% (6) electrographic. Of those with electroclinical seizures (19), 42% displayed >1 semiology. Distribution of seizure semiology was; clonic 34% (11); autonomic 24% (8, of which 6 had prolonged ictal apnea); automatisms 18% (6); behavioral arrest 12% (4); and sequential 12% (4). ASM was administered to 64% (32/50). Of those with EEG-confirmed seizures, only 62% (16/26) received ASM. In the non-seizure group, 38% (9/24) received ASM during monitoring. ASM was administered 42 times, of which 45% (19) were considered appropriate.

Significance: In this Ugandan NE population, incidence of seizures was high and clinical manifestations frequent. Clonic, autonomic and automatisms were most common. Clinical management was challenging, with both under and overtreatment evident. Respiratory impairment due to autonomic seizures frequently went unrecognized and is a prominent concern, particularly in settings without neonatal intensive care.

Objective: Focal epilepsy can have significant negative impacts on a person's health-related quality of life (HRQoL). Although studies have been published on HRQoL in persons with focal epilepsy (PWFE), determinants of HRQoL have not been comprehensively examined. This systematic literature review (SLR) queried existing literature to identify aspects associated with HRQoL in PWFE without focus on resective epilepsy surgery, with an interest in identifying modifiable determinants for medical/nonmedical interventions.

Methods: This SLR was conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Searches were conducted in PubMed and Google Scholar for articles published from January 1, 1900, to February 19, 2023, reporting on the association between HRQoL or employability and a range of demographic, psychosocial, or epilepsy-related factors and comorbidities in PWFE.

Results: A total of 879 abstracts were identified, with 126 manuscripts reviewed and 37 studies selected for inclusion that quantified the relationship between HRQoL and the variable of interest by multivariate (N = 21) or univariate only (N = 15) methods; 10 multivariate models also included univariate data. In adjusted models, the most commonly examined determinants of HRQoL included depression (n = 15/21), number of antiseizure medications (ASMs; n = 13/21), seizure frequency (continuous seizure count, n = 11/21; seizure freedom, n = 5/21), anxiety (n = 10/21), duration of disease (n = 9/21), and cognition (n = 9/21). Depression, anxiety, and cognition were frequently seen as significant contributors to HRQoL when studied (14/15 [93%], 9/10 [90%], and 7/9 [78%], respectively). Among concepts studied less frequently, ASM severity/adverse event burden was significant each time examined (in 5/19 studies). Attainment of seizure freedom and employability was significant 75% (n = 3/4) and 72% (n = 5/7) of the time, respectively.

Significance: Poor HRQoL in PWFE can be attributed to a multitude of factors, including depression, anxiety, factors in disease management, and employability. An unmet need remains in addressing elements associated with poor HRQoL in this population.