A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy.

Developmental and epileptic encephalopathies (DEE) are a heterogenous group of conditions characterized by the co-occurrence of epilepsy and intellectual/developmental disability. Despite several known DEE-related genes, including these encoding ion channels, still many cases remain without molecular diagnosis. Here, we present a 2-year-old girl with severe DEE in whom whole exome sequencing revealed de novo p.(Val471Leu) variant in the KCNC2 encoding Kv3.2, a voltage-gated potassium channel. To the best of our knowledge, this is the third DEE case due to KCNC2 mutation. Our clinical and molecular findings, particularly the recurrence of p.(Val471Leu) in patient with similar clinical phenotype, further support KCNC2 as a novel DEE-associated gene.

The TrueCPR device in the process of teaching cardiopulmonary resuscitation: A randomized simulation trial.

BACKGROUND: International resuscitation guidelines emphasize the importance of high quality chest compressions, including correct chest compression depth and rate and complete chest recoil. The aim of the study was to assess the role of the TrueCPR device in the process of teaching cardiopulmonary resuscitation in nursing students. METHODS: A prospective randomized experimental study was performed among 94 first year students of nursing. On the next day, the participants were divided into 2 groups-the control group practiced chest compressions without the use of any device for half an hour, and the experimental group practiced with the use of TrueCPR. Further measurement of chest compressions was performed after a month. RESULTS: The chest compression rate achieved the value of 113 versus 126 (P < .001), adequate chest compression rate (%) was 86 versus 68 (P < .001), full chest release (%) 92 versus 69 (P = .001), and correct hand placement (%) 99 versus 99 (P, not significant) in TrueCPR and standard BLS groups, respectively. As for the assessment of the confidence of chest compression quality, 1 month after the training, the evaluation in the experimental group was statistically significantly higher (91 vs 71; P < .001) than in the control group. CONCLUSIONS: Cardiopulmonary resuscitation training with the use of the TrueCPR device is associated with better resuscitation skills 1 month after the training. The participants using TrueCPR during the training achieved a better chest compression rate and depth with in international recommendations and better full chest release percentage and self-assessed confidence of chest compression quality comparing with standard cardiopulmonary resuscitation training.

Towards an optimization of stimulus parameters for brain-computer interfaces based on steady state visual evoked potentials.

Efforts to construct an effective brain-computer interface (BCI) system based on Steady State Visual Evoked Potentials (SSVEP) commonly focus on sophisticated mathematical methods for data analysis. The role of different stimulus features in evoking strong SSVEP is less often considered and the knowledge on the optimal stimulus properties is still fragmentary. The goal of this study was to provide insight into the influence of stimulus characteristics on the magnitude of SSVEP response. Five stimuli parameters were tested: size, distance, colour, shape, and presence of a fixation point in the middle of each flickering field. The stimuli were presented on four squares on LCD screen, with each square highlighted by LEDs flickering with different frequencies. Brighter colours and larger dimensions of flickering fields resulted in a significantly stronger SSVEP response. The distance between stimulation fields and the presence or absence of the fixation point had no significant effect on the response. Contrary to a popular belief, these results suggest that absence of the fixation point does not reduce the magnitude of SSVEP response. However, some parameters of the stimuli such as colour and the size of the flickering field play an important role in evoking SSVEP response, which indicates that stimuli rendering is an important factor in building effective SSVEP based BCI systems.

Long-term results of vagus nerve stimulation in children and adolescents with drug-resistant epilepsy.

PURPOSE: The purpose of this study was to evaluate long-term seizure reduction and on-demand magnet use in children and adolescents with drug-resistant epilepsy who were treated with vagus nerve stimulation therapy. METHODS: Fifty-seven children and adolescents under 18 years of age with drug-resistant epilepsy were implanted with a vagus nerve stimulation therapy device. Seizure reduction was evaluated at 6, 12, 24, 36, and 48 months after implantation. Magnet effect on seizure frequency was evaluated during the first week after implantation and after 6, 12, 24, 36, and 48 months of treatment. RESULTS: The mean reduction in seizure frequency compared with baseline was significant at all time points up to 48 months post-implantation. At 12 months, the average reduction in seizure frequency was 52.4%, and at 48 months, it was 53.1% (observed case analysis). The use of a magnet to deliver extra "on-demand" stimulation between cycles resulted in cessation of seizures in 16.1% of patients, partial effect in 73.2%, and no effect in 10.7%, when evaluated within 1 week of implantation. The magnet effect decreased slightly with increasing time after implantation. A sub-analysis of children ≤12 years of age (N = 34) showed similar results after 36 months of follow-up. The therapy was well tolerated regardless of age. CONCLUSION: Vagus nerve stimulation therapy is a safe and effective adjunctive treatment for children and adolescents of all ages with drug-resistant epilepsy.

Open database of epileptic EEG with MRI and postoperational assessment of foci--a real world verification for the EEG inverse solutions.

This paper introduces a freely accessible database http://eeg.pl/epi , containing 23 datasets from patients diagnosed with and operated on for drug-resistant epilepsy. This was collected as part of the clinical routine at the Warsaw Memorial Child Hospital. Each record contains (1) pre-surgical electroencephalography (EEG) recording (10-20 system) with inter-ictal discharges marked separately by an expert, (2) a full set of magnetic resonance imaging (MRI) scans for calculations of the realistic forward models, (3) structural placement of the epileptogenic zone, recognized by electrocorticography (ECoG) and post-surgical results, plotted on pre-surgical MRI scans in transverse, sagittal and coronal projections, (4) brief clinical description of each case. The main goal of this project is evaluation of possible improvements of localization of epileptic foci from the surface EEG recordings. These datasets offer a unique possibility for evaluating different EEG inverse solutions. We present preliminary results from a subset of these cases, including comparison of different schemes for the EEG inverse solution and preprocessing. We report also a finding which relates to the selective parametrization of single waveforms by multivariate matching pursuit, which is used in the preprocessing for the inverse solutions. It seems to offer a possibility of tracing the spatial evolution of seizures in time.

Neuronavigation-guided implantation of foramen ovale electrodes in a child.

The purpose of this paper is to present a novel technique of implantation of foramen ovale electrodes under neuronavigation guidance. The technique is simple, safe, and effective, greatly reducing the patient's trauma, the operating time, and the surgeon's stress.

[Vagus nerve stimulation in severe, treatment-resistent depression]. / Stymulacja nerwu blednego w ciezkiej, opornej na leczenie depresji.

Since a few years, attempts are taken at the application of vagus nerve stimulation in the treatment of severe depression. It appears that the vagus nerve exerts a direct influence on areas of the brain associated with the regulation of mood and increases the level of biogenic amines. What is more, studies have confirmed an increased activity of fronto-orbital and prefrontal cortex, hypothalamus, cingulum and an increased concentration of serotonin and noradrenalin in the CNS and in the cerebro-spinal fluid. Preliminary clinical trials have confirmed the efficacy, good tolerance and safety of this treatment modality, although some objections have been raised whether these promising results were not partly due to the placebo effect. Therefore new, multicenter clinical studies have been designed, enabling an unbiased evaluation of usefulness of this method in the treatment of depression.

Time-frequency-space localization of epileptic EEG oscillations.

This paper presents a hybrid method for localization of oscillatory EEG activity. It consists of two steps: multichannel matching pursuit with complex Gabor dictionary, and LORETA inverse solution. Proposed algorithm was successfully applied to the localization of epileptogenic EEG in a single patient.

[Vagus nerve stimulation in drug-resistant epilepsy. Experience with 23 patients]. / Leczenie padaczki lekoopornej metoda stymulacji nerwu blednego. Doswiadczenia wlasne u 23 chorych.

BACKGROUND: Vagal nerve stimulation (VNS) is a new non-pharmacological method of pharmacoresistant epilepsy treatment. The aim of this paper was to present effects of treatment in 23 patients with drug-resistant epilepsy with a different etiology. MATERIAL AND METHODS: Implantation and treatment was performed in two centers in 1998-2002. The effect of treatment was presented as a reduction of seizures during therapy. RESULTS: The lack of group homogeneity and a small number of patients (especially a small number of patients with a long follow-up period) did not allow a more detailed analysis to be made, although there seems to be a clear tendency to obtain better effects of treatment over follow-up time (at 24 month more than 50% seizure reduction or cease of seizures was observed in 80% of patients). The possibility to turn on the device "on demand" is an important advantage of this method. This raises the effectiveness of treatment in more than 80% of patients, and in more than 20% it stops the seizure. There were two groups of undesired side effects: frequent specific effects caused by local irritation of the vagal nerve in the cervical part of the neck and rare transient general effects. Both groups of effects rarely caused any treatment complications. CONCLUSIONS: VNS is an effective method of treatment, complementary to other epilepsy treatment methods and should be used in patients with drug-resistant epilepsy as an alternative to neurosurgical treatment. VNS improves the quality of life in treated patients.