BACKGROUND: Pathogenesis of epilepsy involves dysregulation of the neurotransmitter system contributing to hyper-excitability of neuronal cells. MicroRNA (miRNAs) are small non-coding RNAs known to play a crucial role in post-transcriptional regulation of gene expression. METHODS: The present review was prepared following the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines, employing a comprehensive search strategy to identify and extract data from published research articles. Keywords suchas epilepsy, micro RNA (micro RNAs, miRNA, miRNAs, miR), neurotransmitters (specific names), and neurotransmitter receptors (specific names) were used to construct the query. RESULTS: A total of 724 articles were identified using the keywords epilepsy, microRNA along with select neurotransmitter and neurotransmitter receptor names. After exclusions, the final selection consisted of 17 studies, most of which centered on glutamate and gamma-aminobutyric acid (GABA) receptors. Singular studies also investigated miRNAs affecting cholinergic, purinergic, and glycine receptors. CONCLUSION: This review offers a concise overview of the current knowledge on miRNA-mediated regulation of neurotransmitter receptors in epilepsy and highlights their potential for future clinical application.
- MeSH
- epilepsie * genetika metabolismus MeSH
- lidé MeSH
- mikro RNA * genetika metabolismus MeSH
- receptory neurotransmiterů * genetika metabolismus MeSH
- zvířata MeSH
- Check Tag
- lidé MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
- systematický přehled MeSH
OBJECTIVE: Significant attention has been devoted to knowledge of and attitudes toward epilepsy among teachers, and the importance of their previous experience with epilepsy has been proved. However, no information about a specific group of homeroom teachers is available despite their importance in forming a positive climate in class and preventing related stigma. Thus, we aim to evaluate knowledge of and attitudes towards epilepsy in this group and compare the results with previously studied groups of 136 teachers in training and 123 primary school teachers not having, in most cases, experience with children with epilepsy. METHODS: One hundred and four homeroom teachers of children with epilepsy attending mainstream schools were involved in the study. They fulfilled an 18-item knowledge test, a 5-item questionnaire focusing on epilepsy-related self-confidence, and a 21-item Czech version of the Attitudes Towards People with Epilepsy scale. All instruments were used and validated in our previous research focusing on the other groups of teachers, making possible the direct comparison of the results. RESULTS: We found that homeroom teachers had significantly better knowledge of epilepsy (total score of 11.75 ± 2.29 points compared with 10.21 ± 2.08 points for primary school teachers and 9.60 ± 2.08 points for teachers in training) as well as more positive attitudes (30.81 ± 11.11 vs. 24.80 ± 11.01, and 25.81 ± 10.20, respectively). Regarding self-confidence, homeroom teachers were comparable with primary school teachers (total score of 18.31 ± 3.74 compared with 17.71 ± 3.86) but significantly better than teachers in training (16.37 ± 3.20). CONCLUSIONS: The results suggest that despite having a higher level of epilepsy-related knowledge, self-confidence, and attitudes, homeroom teachers still have significant shortages in some specific issues, especially regarding the ability to recognize the adverse effects of antiepileptic drugs. Tailored education interventions focusing on these groups and topics are thus highly needed.
- MeSH
- dítě MeSH
- epilepsie * MeSH
- lidé MeSH
- průzkumy a dotazníky MeSH
- školy MeSH
- učitelé MeSH
- zdraví - znalosti, postoje, praxe * MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Česká republika MeSH
BACKGROUND: Idiopathic generalized epilepsy (IGE) is one of the most common epilepsies and is believed to have a strong genetic origin. Patients with IGE present largely heterogeneous neurocognitive profiles and might show some neurocognitive impairments. Furthermore, IGE siblings may demonstrate worse results in neuropsychological tests as well. In our study, we aimed to map the neurocognitive profile both in patients with IGE and the siblings. We also sought to establish a neurocognitive profile for each IGE syndrome. METHODS: The research sample included 110 subjects (IGE n = 46, biological siblings BS n = 16, and healthy controls n = 48) examined. Subjects were neuropsychologically examined in domains of intelligence, attention, memory, executive, and motor functions. The data obtained from the examination were statistically processed to determine whether and how IGE patients (including distinct syndromes) and the siblings differed neurocognitively from healthy controls (adjusted z-scores by age, education, and gender, and composite z-scores of cognitive domains). Data on anti-seizure medication, including defined daily doses, were obtained and included in the analysis. RESULTS: IGE patients and their biological siblings performed significantly worse in most of the neuropsychological tests than healthy controls. The neurocognitive profile of composite z-scores showed that IGE and biological siblings had equally significantly impaired performance in executive functions. IGE group also demonstrated impaired composite attention and motor function scores. The profile of individual IGE syndromes showed that JAE, JME, and EGTCS had significantly worse performance in composite execution score and motor function score. JAE presented significantly worse performance in intelligence and attention. JME exhibited significantly worse composite score in the attention domain. Anti-seizure medication, depression, and quality of life were unrelated to cognitive performance in IGE group. The level of depression significantly predicted the overall value of quality of life in patients with IGE, while cognitive domains, sociodemographic, and clinical factors were unrelated. CONCLUSION: Our study highlights the importance to consider the neurocognitive profile of IGE patients that can lead to difficulties in their education, acceptance, and management of coping strategies. Cognitive difficulties of IGE siblings could support a hypothesis that these impairments emerge from heritable traits.
- MeSH
- epilepsie generalizovaná * MeSH
- imunoglobulin E MeSH
- kvalita života MeSH
- lidé MeSH
- neuropsychologické testy MeSH
- sourozenci * psychologie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
PURPOSE: The aim of the study was to examine the neuropsychological performance and effort in patients with a confirmed PNES diagnosis. The second aim of the study was to investigate the relationship between validity indicators from the cognitive battery with validity and clinical scales from a personality scale. METHOD: Patients with PNES (N = 250; F:M 186:64; mean age 38.32 (13.23)) were assessed utilizing the RBANS (Czech Research version) to evaluate cognitive performance and to obtain the Effort Index. The MMPI-2 was used to evaluate personality and psychopathology. RESULTS: Global cognitive performance was 0.92 SD below average (according to the Gaussian distribution) in patients with PNES. The lowest scores in the sample were in the Attention domain (-1.7SD). Insufficient effort was detected in 10% of patients. Education correlated negatively with the Effort index (rs = -0.25, p = 0.01). A mild significant correlation in Scale 7 (rs = 0.21, p = 0.01) and Scale 8 (rs = 0.24, p = 0.01), and a significant correlation between Effort Index and Back F Scale (rs = 0.23, p = 0.01) were noted. CONCLUSIONS: Assessment of cognitive performance and effort is an essential part of the comprehensive evaluation of patients with PNES during their hospitalization at Epilepsy centers. Many aspects of the neuropsychological assessment can offer useful indications for reaching a differential diagnosis, including clinical history, behavioral observations, cognitive and symptom validity testing, and structured psychological inventories.
- MeSH
- dospělí MeSH
- elektroencefalografie MeSH
- epilepsie * psychologie MeSH
- lidé MeSH
- neuropsychologické testy MeSH
- psychogenní neepileptické záchvaty * MeSH
- záchvaty diagnóza psychologie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Česká republika MeSH
AIM: The primary goal was to determine the yield of next-generation sequencing (NGS) epilepsy gene panels used for epilepsy etiology diagnosing using a multidisciplinary approach and to demonstrate the importance of genotype-phenotype correlations. The secondary goal was to evaluate the application of precision medicine in selected patients. METHODS: This single-center retrospective study included a total of 175 patients (95 males and 80 females) aged 0-19 years. They were examined between 2015 and 2020 using an NGS epilepsy gene panel (270 genes). A bioinformatic analysis was performed including copy number variation identification. Thorough genotype-phenotype correlation was performed. RESULTS: Out of 175 patients, described pathogenic variants or novel variants with clear pathogenic impact were identified in 30 patients (17.14%). Genotype-phenotype correlations and parental DNA analysis were performed, and genetic diagnosis was confirmed on the basis of the results in another 16 out of 175 patients (9.14%). The diagnostic yield of our study increased from 30 to 46 patients (by 53.33%) by the precise genotype-phenotype correlation. INTERPRETATION: We emphasize a complex genotype-phenotype correlation and a multidisciplinary approach in evaluating the results of the NGS epilepsy gene panel, which enables the most accurate genetic diagnosis and correct interpretation of results.
- MeSH
- epilepsie * diagnóza genetika MeSH
- fenotyp MeSH
- genetické asociační studie MeSH
- genetické testování metody MeSH
- lidé MeSH
- mutace MeSH
- retrospektivní studie MeSH
- variabilita počtu kopií segmentů DNA * MeSH
- vysoce účinné nukleotidové sekvenování metody MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
PURPOSE: The purpose of the present study is to examine the Minnesota Multiphasic Personality Inventory 2 (MMPI-2) scores of individuals diagnosed with psychogenic non-epileptic seizures (PNES) in a tertiary epilepsy center in the Czech Republic. METHOD: Patients (F:M 130:45; mean age 36.8 years; 12.7 years of education, frequency of seizures 0.37 per day, illness duration 5.75 years) were assessed while inpatients at the Epilepsy Center, Na Homolce Hospital, Prague. Patients underwent video-EEG testing and comprehensive neuropsychological testing and personality assessment which included the MMPI-2. RESULTS: Elevated (+1.5SD) F and Back F (Fb) validity scales were observed along with elevated clinical scales Hypochondriasis (Hs), Depression (D), Hysteria (Hy), Psychasthenia (Pt), and Schizophrenia (Sc). Scores higher than 1 SD were found in Psychopathic Deviate (Pd), Paranoia (Pa), Hypomania (Ma) andSocial Introversion (Si) scales and on validity scales True Response Inconsistency Scale (TRIN) and Variable Response Inconsistency Scale (VRIN). CONCLUSION: Patients diagnosed with PNES exhibit numerous elevations on the MMPI-2. Understanding the underlying psychological constructs of the patient with PNES more accurately improves predictive utility (for the presence of PNES) and allows the clinician to offer interventions that are more customized. Minnesota Multiphasic Personality Inventory results may be useful to exclude other possible diagnoses and to further determine the individual's characteristics that may be helpful when tailoring treatment, including psychotherapy.
- MeSH
- dospělí MeSH
- epilepsie * diagnóza MeSH
- konverzní poruchy * MeSH
- lidé MeSH
- MMPI MeSH
- osobnostní dotazník MeSH
- záchvaty diagnóza MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Česká republika MeSH
OBJECTIVE: Sufficient public knowledge about epilepsy is a starting point for reducing epilepsy-related stigma and improving quality of life of people with this condition. Thus, interventions aimed at improving such knowledge are greatly needed. However, there is a significant lack of such interventions and none have been applied to preschool children. We aimed to develop effective interventions using the educational board game Action Zone! and a technique known as educational story, and by focusing on the acquisition of knowledge about epilepsy in children aged 5-6 years with no previous knowledge of epilepsy. METHODS: Knowledge about epilepsy was measured using a 20-item test consisting of questions selected from educational game and an 11-item test used successfully in our previous intervention study focused on children aged 9-11 years. Both measures exhibited acceptable internal consistency with Cronbach's alpha of 0.72 and 0.67. In total, 296 children participated in three intervention studies (educational game, educational story, and a revised version of educational story). Level of knowledge was assessed immediately after each intervention and again one month later. RESULTS: We found that all interventions were effective (p = 0.001) in comparison of retest results with baseline of zero level of knowledge based on the statements of children before intervention. Intervention based on educational game resulted in a higher percentage of correct responses in comparison with educational story (p = 0.020). However, the revised version of educational story developed using participatory action research was superior in comparison with the original version (p < 0.001) and fully comparable with educational game (p = 0.864). CONCLUSIONS: The results showed the aforesaid interventions were significant and effective ways to establish basic knowledge about epilepsy in the given age group.
- MeSH
- dítě MeSH
- epilepsie * MeSH
- kvalita života * MeSH
- lidé MeSH
- předškolní dítě MeSH
- průzkumy a dotazníky MeSH
- společenské stigma MeSH
- zdraví - znalosti, postoje, praxe MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- předškolní dítě MeSH
- Publikační typ
- časopisecké články MeSH
OBJECTIVE: In order to introduce a complex system of monitoring and evaluation of the heath-related quality of life (HRQoL) of children and adolescents with epilepsy (CWE) and their families in the Czech Republic, we aimed to validate the Czech versions of two appropriate instruments - the Impact of Pediatric Epilepsy Scale (IPES) and the Quality of Life in Epilepsy Inventory for Adolescents (QOLIE-AD-48). METHODS: The verification of the 11-item IPES was carried out in the group of parents of 248 CWE aged 2-18 years. One hundred and thirty-five CWE from the given group aged 11-18 years then completed the 48-item QOLIE-AD-48. Internal consistency, test-retest reliability (with a three-month interval) and the factorial structure of the Czech versions were determined and compared with the original instruments. RESULTS: We found that the Czech version of the IPES exhibited very good psychometric properties including high internal consistency (Cronbach's alpha, α, of 0.93), high test-retest reliability (intraclass correlation coefficient, ICC, of 0.76) and the same 3-factor structure as the original instrument. The superiority of this 3-factor solution over the alternate 2-factor model proposed for some language versions of the IPES was determined using confirmatory factor analysis. We found 8 items in the Czech version of the QOLIE-AD-48 belonging to original Attitudes towards epilepsy and Social support subscales that do not fit well with the Czech version due to their low correlation with the total score and insufficient test-retest reliability and should be omitted. For the remaining 40 items, we have determined high internal consistency (α = 0.95) and test-retest reliability (ICC = 0.82). Confirmatory factor analysis revealed that the 6-factor solution derived from the original instrument (without two removed subscales) was appropriate for the Czech version. The individual subscales exhibited high internal consistency with α = 0.61-0.91. The external validation of both instruments was confirmed based on a significant correlation between test results and physicians' reports of the characteristics of the child's epilepsy. CONCLUSIONS: The Czech versions of both instruments studied are reliable and valid, and can be used in the next research focusing on the effect of different treatment approaches on the HRQoL of CWE and their families.
- MeSH
- dítě MeSH
- doxorubicin analogy a deriváty MeSH
- epilepsie * diagnóza MeSH
- jazyk (prostředek komunikace) MeSH
- kvalita života * MeSH
- lidé MeSH
- mladiství MeSH
- předškolní dítě MeSH
- průzkumy a dotazníky MeSH
- psychometrie MeSH
- reprodukovatelnost výsledků MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mladiství MeSH
- předškolní dítě MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Česká republika MeSH
Interictal epileptiform discharge (IED) is a traditional hallmark of epileptic tissue that is generated by the synchronous activity of a population of neurons. Interictal epileptiform discharges represent a heterogeneous group of pathological activities that differ in shape, duration, spatiotemporal distribution, underlying cellular and network mechanisms, and their relationship to seizure genesis. The exact role of IEDs in epilepsy is still not well understood, and there remains a persistent dichotomy about the impact on IEDs on seizures. Proseizure, antiseizure, and no impact on ictogenesis have all been described in previous studies. In this article, we review the existing knowledge on the role of interictal discharges in seizure genesis, and we discuss how dynamical approaches to ictogenesis can explain the existing dichotomy about the multifaceted role of IEDs in ictogenesis. This article is part of the Special Issue "NEWroscience 2018".
- MeSH
- elektroencefalografie * MeSH
- epilepsie * MeSH
- lidé MeSH
- neurony MeSH
- záchvaty MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- přehledy MeSH
OBJECTIVE: We analyzed the impact of temporal lobe epilepsy (TLE) with hippocampal sclerosis (HS) on functional connectivity (FC) between mesiotemporal structures. Functional connectivity modifications related to word retrieval were investigated. METHODS: High-density EEG of 21 patients with TLE with HS (12 left TLE and 9 right TLE) and 10 healthy controls (HCs) were recorded during a verbal subsequent memory paradigm. Electroencephalography data were reconstructed into the source space and FC was calculated from the source activity of regions of interest. RESULTS: A significant decrease in FC between the right- and left-sided mesiotemporal structures in TLE was observed. The decrease was significant only with words that were correctly recognized. The decrease in interhemispheric FC between mesiotemporal structures was found in the 8- to 20-Hz frequency range in both left and right TLE. SIGNIFICANCE: The decreased FC between the mesiotemporal structures in TLE is a condition for successful performance of a memory retrieval task. The successful memory retrieval in TLE is related to functional segregation of lesional from nonlesional mesiotemporal structures. This decrease was absent in non-successful responses.
