OBJECTIVE: We comprehensively characterized a large pediatric cohort with focal cortical dysplasia (FCD) type 1 to expand the phenotypic spectrum and to identify predictors of postsurgical outcomes. METHODS: We included pediatric patients with histopathological diagnosis of isolated FCD type 1 and at least 1 year of postsurgical follow-up. We systematically reanalyzed clinical, electrophysiological, and radiological features. The results of this reanalysis served as independent variables for subsequent statistical analyses of outcome predictors. RESULTS: All children (N = 31) had drug-resistant epilepsy with varying impacts on neurodevelopment and cognition (presurgical intelligence quotient [IQ]/developmental quotient scores = 32-106). Low presurgical IQ was associated with abnormal slow background electroencephalographic (EEG) activity and disrupted sleep architecture. Scalp EEG showed predominantly multiregional and often bilateral epileptiform activity. Advanced epilepsy magnetic resonance imaging (MRI) protocols identified FCD-specific features in 74.2% of patients (23/31), 17 of whom were initially evaluated as MRI-negative. In six of eight MRI-negative cases, fluorodeoxyglucose-positron emission tomography (PET) and subtraction ictal single photon emission computed tomography coregistered to MRI helped localize the dysplastic cortex. Sixteen patients (51.6%) underwent invasive EEG. By the last follow-up (median = 5 years, interquartile range = 3.3-9 years), seizure freedom was achieved in 71% of patients (22/31), including seven of eight MRI-negative patients. Antiseizure medications were reduced in 21 patients, with complete withdrawal in six. Seizure outcome was predicted by a combination of the following descriptors: age at epilepsy onset, epilepsy duration, long-term invasive EEG, and specific MRI and PET findings. SIGNIFICANCE: This study highlights the broad phenotypic spectrum of FCD type 1, which spans far beyond the narrow descriptions of previous studies. The applied multilayered presurgical approach helped localize the epileptogenic zone in many previously nonlesional cases, resulting in improved postsurgical seizure outcomes, which are more favorable than previously reported for FCD type 1 patients.

• MeSH
• dítě MeSH
• elektroencefalografie * metody   MeSH
• epilepsie MeSH
• fokální kortikální dysplazie MeSH
• kohortové studie MeSH
• kojenec MeSH
• lidé MeSH
• magnetická rezonanční tomografie * MeSH
• malformace mozkové kůry, skupina I * chirurgie   komplikace   diagnostické zobrazování   MeSH
• malformace mozkové kůry chirurgie   komplikace   diagnostické zobrazování   MeSH
• mladiství MeSH
• pozitronová emisní tomografie MeSH
• předškolní dítě MeSH
• refrakterní epilepsie * chirurgie   diagnostické zobrazování   patofyziologie   MeSH
• výsledek terapie MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Introduction. Vagal nerve stimulation (VNS) is a therapeutical option for the treatment of drug-resistant epileptic patients. The response to VNS varies from patient to patient and is difficult to predict. The proposed study is based on our previous work, identifying relative mean power in pre-implantation EEG as a reliable marker for VNS efficacy prediction in adult patients. Our study has two main tasks. Firstly, to confirm the utility of relative mean power as a feature correlating with VNS efficacy in children. The second is to validate the applicability of our prediction classifier, Pre-X-Stim, in the pediatric population. Material and Methods. We identified a group of children with drug-resistant epilepsy. We included only children in whom EEG contained photic stimulation (Task 1) or was recorded based on the defined acquisition protocol used for development Pre-X-Stim (Task 2). Relative mean powers were calculated. VNS responders and non-responders were compared based on relative mean powers' values. In the next step, we evaluate the utility of our classifier, Pre-X-Stim, in the children population. Results: We identified 57 children treated with VNS - 17 patients were recruited for the Task 1 and 7 patients for the Task 2. When focusing on relative mean powers in EEG spectra, we observed statistically significant differences in theta range. The Pre-X-Stim algorithm was able to predict VNS efficacy correctly in 6 out of 7 patients (the accuracy 83.3%, the sensitivity 75%, the specificity 100%). Conclusions. Based on our results, it seems that children and adults share a similar pattern of EEG relative mean power changes. These changes can be used for pre-implantation prediction of VNS efficacy.

• MeSH
• dítě MeSH
• elektroencefalografie * metody   MeSH
• epilepsie * terapie   patofyziologie   MeSH
• lidé MeSH
• mladiství MeSH
• předškolní dítě MeSH
• refrakterní epilepsie * terapie   patofyziologie   MeSH
• skalp MeSH
• vagová stimulace * metody   MeSH
• výsledek terapie MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

OBJECTIVE: Epilepsy surgery in the operculoinsular cortex is challenging due to the difficult delineation of the epileptogenic zone and the high risk of postoperative deficits. METHODS: Pre- and postsurgical data from 30 pediatric patients who underwent operculoinsular cortex surgery at the Motol Epilepsy Center Prague from 2010 to 2022 were analyzed. RESULTS: Focal cortical dysplasia (FCD; n = 15, 50%) was the predominant cause of epilepsy, followed by epilepsy-associated tumors (n = 5, 17%) and tuberous sclerosis complex (n = 2, 7%). In eight patients where FCD was the most likely etiology, the histology was negative. Seven patients (23%) displayed normal magnetic resonance imaging results. Seizures exhibited diverse semiology and propagation patterns (frontal, perisylvian, and temporal). The ictal and interictal electroencephalographic (EEG) findings were mostly extensive. Multimodal imaging and advanced postprocessing were frequently used. Stereo-EEG was used for localizing the epileptogenic zone and eloquent cortex in 23 patients (77%). Oblique electrodes were used as guides for better neurosurgeon orientation. The epileptogenic zone was in the dominant hemisphere in 16 patients. At the 2-year follow-up, 22 patients (73%) were completely seizure-free, and eight (27%) experienced a seizure frequency reduction of >50% (International League Against Epilepsy class 3 and 4). Fourteen patients (47%) underwent antiseizure medication tapering; treatment was completely withdrawn in two (7%). Nineteen patients (63%) remained seizure-free following the definitive outcome assessment (median = 6 years 5 months, range = 2 years to 13 years 5 months postsurgery). Six patients (20%) experienced corona radiata or basal ganglia ischemia; four (13%) improved to mild and one (3%) to moderate hemiparesis. Two patients (7%) operated on in the anterior insula along with frontotemporal resection experienced major complications: pontine ischemia and postoperative brain edema. SIGNIFICANCE: Epilepsy surgery in the operculoinsular cortex can lead to excellent patient outcomes. A comprehensive diagnostic approach is crucial for surgical success. Rehabilitation brings a great chance for significant recovery of postoperative deficits.

• MeSH
• dítě MeSH
• elektroencefalografie * MeSH
• epilepsie chirurgie   diagnostické zobrazování   MeSH
• kohortové studie MeSH
• kojenec MeSH
• lidé MeSH
• magnetická rezonanční tomografie MeSH
• malformace mozkové kůry chirurgie   komplikace   diagnostické zobrazování   MeSH
• mladiství MeSH
• mozková kůra diagnostické zobrazování   chirurgie   MeSH
• neurochirurgické výkony metody   MeSH
• předškolní dítě MeSH
• retrospektivní studie MeSH
• výsledek terapie MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Despite the availability of new drugs on the clinics in recent years, drug-resistant epilepsy remains an unresolved challenge for healthcare, and one-third of epilepsy patients remain refractory to anti-seizure medications. Gene therapy in experimental models has emerged as effective treatment targeting specific neuronal populations in the epileptogenic focus. When combined with an external chemical activator using chemogenetics, it also becomes an "on-demand" treatment. Here, we evaluate a targeted and specific chemogenetic therapy, the PSAM/PSEM system, which holds promise as a potential candidate for clinical application in treating drug-resistant epilepsy. We show that the inert ligand uPSEM817, which selectively activates the chloride-permeable channel PSAM4-GlyR, effectively reduces the number of depolarization-induced action potentials in vitro. This effect is likely due to the shunting of depolarizing currents, as evidenced by decreased membrane resistance in these cells. In organotypic slices, uPSEM817 decreased the number of bursts and peak amplitude of events of spontaneous epileptiform activity. Although administration of uPSEM817 in vivo did not significantly alter electrographic seizures in a male mouse model of temporal lobe epilepsy, it did demonstrate a strong trend toward reducing the frequency of interictal epileptiform discharges. These findings indicate that PSAM4-GlyR-based chemogenetics holds potential as an anti-seizure strategy, although further refinement is necessary to enhance its efficacy.

• MeSH
• akční potenciály účinky léků   MeSH
• epilepsie patofyziologie   genetika   farmakoterapie   terapie   metabolismus   MeSH
• genetická terapie metody   MeSH
• hipokampus * metabolismus   MeSH
• lidé MeSH
• modely nemocí na zvířatech MeSH
• myši MeSH
• zvířata MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• myši MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH

ALDH7A1 deficiency is an epileptic encephalopathy whose seizures respond to treatment with supraphysiological doses of pyridoxine. It arises as a result of damaging variants in ALDH7A1, a gene in the lysine catabolism pathway. α-Aminoadipic semialdehyde (α-AASA) and Δ1-piperideine-6-carboxylate (P6C), which accumulate because of the block in the lysine pathway, are diagnostic biomarkers for this disorder. Recently, it has been reported that 6-oxo-pipecolic acid (6-oxo-PIP) also accumulates in the urine, CSF and plasma of ALDH7A1-deficient individuals and that, given its improved stability, it may be a more suitable biomarker for this disorder. This study measured 6-oxo-PIP in urine from a cohort of 30 patients where α-AASA was elevated and showed that it was above the normal range in all those above 6 months of age. However, 6-oxo-PIP levels were within the normal range in 33% of the patients below 6 months of age. Levels increased with age and correlated with a decrease in α-AASA levels. Longitudinal analysis of urine samples from ALDH7A1-deficient patients who were on a lysine restricted diet whilst receiving supraphysiological doses of pyridoxine showed that levels of 6-oxo-PIP remained elevated whilst α-AASA decreased. Similar to α-AASA, we found that elevated urinary excretion of 6-oxo-PIP can also occur in individuals with molybdenum cofactor deficiency. This study demonstrates that urinary 6-oxo-PIP may not be a suitable biomarker for ALDH7A1 deficiency in neonates. However, further studies are needed to understand the biochemistry leading to its accumulation and its potential long-term side effects.

• MeSH
• aldehyddehydrogenasa nedostatek   genetika   MeSH
• biologické markery * moč   MeSH
• dítě MeSH
• epilepsie moč   MeSH
• kojenec MeSH
• kyselina 2-aminoadipová moč   analogy a deriváty   MeSH
• kyseliny pipekolové * moč   MeSH
• lidé MeSH
• lysin nedostatek   moč   MeSH
• mitochondriální aldehyddehydrogenasa nedostatek   genetika   MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• pyridoxin nedostatek   moč   terapeutické užití   MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Research Support, N.I.H., Extramural MeSH

Objective.Accurate localization of the epileptogenic zone (EZ) is crucial for epilepsy surgery, but the class imbalance of epileptogenic vs. non-epileptogenic electrode contacts in intracranial electroencephalography (iEEG) data poses significant challenges for automatic localization methods. This review evaluates methodologies for handling the class imbalance in EZ localization studies that use machine learning (ML).Approach.We systematically reviewed studies employing ML to localize the EZ from iEEG data, focusing on strategies for addressing class imbalance in data handling, algorithm design, and evaluation.Results.Out of 2,128 screened studies, 35 fulfilled the inclusion criteria. Across the studies, the iEEG contacts annotated as epileptogenic prior to automatic localization constituted a median of 18.34% of all contacts. However, many of these studies did not adequately address the class imbalance problem. Techniques such as data resampling and cost-sensitive learning were used to mitigate the class imbalance problem, but the chosen evaluation metrics often failed to account for it.Significance.Class imbalance significantly impacts the reliability of EZ localization models. More comprehensive management and innovative approaches are needed to enhance the robustness and clinical utility of these models. Addressing class imbalance in ML models for EZ localization will improve both the predictive performance and reliability of these models.

• MeSH
• elektroencefalografie metody   MeSH
• elektrokortikografie * metody   MeSH
• epilepsie * chirurgie   diagnóza   patofyziologie   MeSH
• implantované elektrody MeSH
• lidé MeSH
• strojové učení MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH
• systematický přehled MeSH

PURPOSE: Epilepsy in children is often associated with impaired quality of life, lower academic achievement, and reduced academic self-concept, as well as an increased risk of depression and anxiety. This study aims to evaluate the possible impact of comorbidities, such as learning disabilities (LD) and attention deficit hyperactivity disorder (ADHD), on these variables. METHODS: A total of 104 children with epilepsy (CWE) aged 8-15 years, attending mainstream schools, participated in the study. Of these, 45 were diagnosed with LD and/or ADHD. Participants completed the CHEQOL-25 questionnaire to assess quality of life (QoL), the SPAS questionnaire to evaluate academic self-concept, as well as inventories measuring depressive and anxiety symptoms. The data were analyzed to identify differences between subgroups with and without LD/ADHD using a two-sample t-test. Additionally, correlation analysis was conducted to identify other relevant variables influencing QoL, academic self-concept, and depressive and anxiety symptoms. RESULTS: QoL and academic self-concept were significantly poorer in CWE with LD/ADHD compared to those without comorbidities. QoL showed statistically significant associations with depressive and anxiety symptoms, and academic self-concept. While depressive symptoms levels in CWE without comorbidities align with those in the general population, CWE with LD/ADHD showed an increased association with depressive symptoms. Although anxiety symptoms were relatively strongly associated with depressive symptoms, their prevalence remains broadly comparable to that of children without epilepsy, regardless of the presence of LD/ADHD. CONCLUSION: CWE with LD/ADHD and their families may benefit from focused attention, including targeted counseling and therapeutic interventions. However, specific interventional studies are recommended, based on child-specific findings.

• MeSH
• deprese epidemiologie   psychologie   MeSH
• dítě MeSH
• duševní zdraví * MeSH
• epilepsie * psychologie   epidemiologie   komplikace   MeSH
• hyperkinetická porucha epidemiologie   psychologie   MeSH
• komorbidita MeSH
• kvalita života * psychologie   MeSH
• lidé MeSH
• mladiství MeSH
• poruchy učení * epidemiologie   psychologie   MeSH
• průzkumy a dotazníky MeSH
• sebepojetí * MeSH
• úzkost epidemiologie   psychologie   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

OBJECTIVE: The pre-surgical evaluation of epilepsy relies on the electrophysiological recordings of spontaneous seizures. During this period drug dose decreases increase the likelihood of seizures transitioning the brain from a low to high seizure likelihood state, so-called pro-ictal state. This study aimed to identify the dynamic brain changes characteristic of this transition from 386 ten-minute segments of intracranial EEG recordings of 29 patients with drug-refractory temporal lobe epilepsy. METHODS: We studied brain dynamics through mean phase locking value and relative power in gamma band, and autocorrelation function width. We further explored interactions with pro-ictal factors, such as rate of interictal spikes and high frequency oscillations, circadian and multi-day cycles, and clinical outcomes. RESULTS: We observed significant increases in gamma power in the epileptogenic zone, and critical slowing in both the epileptogenic zone and presumably healthy cortex. These changes were linked with increases in spike and high frequency oscillations rate. CONCLUSIONS: Brain dynamics changed on the slow time scale - from the beginning to the end of the multi-day interval - but did not change in the short-term during the pre-ictal interval, thus could reflect pro-ictal changes. SIGNIFICANCE: We highlight gamma power and critical slowing indices as markers of pro-ictal brain states, as well as their potential to track the seizure-related brain mechanisms during the presurgical evaluation of epilepsy patients.

• MeSH
• dospělí MeSH
• elektroencefalografie metody   MeSH
• elektrokortikografie metody   MeSH
• epilepsie temporálního laloku * patofyziologie   diagnóza   MeSH
• gama rytmus EEG * fyziologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mozek * patofyziologie   MeSH
• refrakterní epilepsie * patofyziologie   MeSH
• záchvaty * patofyziologie   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

In drug-resistant focal epilepsy, planning surgical resection can involve presurgical intracranial EEG (iEEG) recordings to detect seizures and other iEEG patterns to improve postsurgical seizure outcome. We hypothesized that resection of tissue generating interictal high-frequency oscillations (HFOs, 80-500 Hz) in the iEEG predicts surgical outcome. In eight international epilepsy centres, iEEG was recorded during the presurgical evaluation of patients. The patients were of all ages, had epilepsy of all types, and underwent surgical resection of a single focus aiming at seizure freedom. In a prospective analysis, we applied a fully automated definition of HFO that was independent of the dataset. Using an observational cohort design that was blinded to postsurgical seizure outcome, we analysed HFO rates during non-rapid-eye-movement sleep. If channels had consistently high rates over multiple epochs, they were labelled the 'HFO area'. After HFO analysis, centres provided the electrode contacts located in the resected volume and the seizure outcome at follow-up ≥24 months after surgery. The study was registered at www.clinicaltrials.gov (NCT05332990). We received 160 iEEG datasets. In 146 datasets (91%), the HFO area could be defined. The patients with a completely resected HFO area were more likely to achieve seizure freedom in comparison to those without [odds ratio 2.61, 95% confidence interval (CI) 1.15-5.91, P = 0.02]. Among seizure-free patients, the HFO area was completely resected in 31 and not completely resected in 43. Among patients with recurrent seizures, the HFO area was completely resected in 14 and not completely resected in 58. When predicting seizure freedom, the negative predictive value of the HFO area (68%, CI 52-81) was higher than that for the resected volume as a predictor by itself (51%, CI 42-59, P = 4 × 10-5). The sensitivity and specificity for complete HFO area resection were 0.88 (CI 0.72-0.98) and 0.39 (CI 0.25-0.54), respectively, and the area under the curve was 0.83 (CI 0.58-0.97), indicating good predictive performance. In a blinded cohort study from independent epilepsy centres, applying a previously validated algorithm for HFO marking without the need for adjusting to new datasets allowed us to validate the clinical relevance of HFOs to plan the surgical resection.

• MeSH
• dítě MeSH
• dospělí MeSH
• elektroencefalografie metody   MeSH
• elektrokortikografie * metody   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• prospektivní studie MeSH
• refrakterní epilepsie * chirurgie   patofyziologie   MeSH
• výsledek terapie MeSH
• záchvaty * chirurgie   patofyziologie   diagnóza   MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• multicentrická studie MeSH
• pozorovací studie MeSH

V tomto článku chceme upozornit na zdroje nejčastějších chyb při indikaci a popisu EEG vyšetření obecně i u záchvatových onemocnění a encefalopatií. Upozorňujeme na chyby v popisech a interpretacích, se kterými se v praxi nejčastěji setkáváme. Chceme otevřít diskuzi o tom, jak v českém prostředí lze tyto chyby minimalizovat.

In this article, we want to highlight the causes of the most frequent mistakes in indications and descriptions of EEG findings, both generally and specifically in seizure disorders and encephalopathies. We refer to the mistakes in descriptions and interpretations we most frequently see in our practice. We want to open the discussion about how to minimalize these mistakes in Czech environment.

• MeSH
• chybná diagnóza MeSH
• elektroencefalografie * MeSH
• epilepsie diagnóza   MeSH
• lidé MeSH
• nemoci mozku MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• přehledy MeSH