Exergames improves cognitive functions in adolescents with depression: study protocol of a prospective, assessor-blind, randomized controlled trial.

BACKGROUND: Depression is a condition that imposes a significant disease burden, with cognitive impairment being one of its costly symptoms. While cognitive rehabilitation is crucial, it is also challenging. Although some studies have investigated the impact of exergames on cognitive function improvement, these have primarily focused on the elderly population, with limited attention given to individuals with depression. Consequently, this study aims to investigate the effects of exergames on cognitive functions in adolescents with depression and compare the effectiveness of exergames with traditional exercise. METHOD: The present investigation is a single-center randomized controlled trial that employs the ANOVA method to calculate the sample size using G*Power software, assuming a 25% dropout rate. The study enrolls fifty-four eligible patients with depression who are randomly allocated to one of three treatment groups: the exergames group, which receives standard treatment and exergames intervention; the exercise group, which receives standard treatment and traditional exercise intervention; and the control group, which receives standard treatment exclusively. The study provides a comprehensive regimen of 22 supervised exercise and exergame sessions over an 8-week period, with a frequency of twice per week for the initial two weeks and three times per week for the subsequent six weeks. The researchers gather cognitive, mood, and sleep metrics at the onset of the first week, as well as at the conclusion of the fourth and eighth weeks. The researchers employ a wearable device to track participants' heart rate during each intervention session and evaluate the Borg Rating of Perceived Exertion scale at the conclusion of each session. DISCUSSION: The findings from this study make several contributions to the current literature. First, this study comprehensively reports the efficacy of an exergames intervention for multidimensional symptoms in adolescents with depression. Second, this study also compares the efficacy of exergames with that of traditional exercise. These findings provide a theoretical basis for the use of exergames as an adjunctive intervention for depression and lay the groundwork for future research. TRIAL REGISTRATION: This trial is registered with the Chinese Clinical Trials Registry (Registration number: ChiCTR2100052709; Registration Status: Prospective registration;) 3/11/2021, URL:    http://www.chictr.org.cn/edit.aspx?pid=135663&htm=4 .

Simple method to modulate the scattered light field under strong disturbance.

In this Letter, we propose a simple and robust method that we have named an optimal accumulation algorithm (OAA) to modulate a scattered light field. Compared with the simulated annealing algorithm (SAA) and genetic algorithm (GA), the OAA is very robust, that is to say it has a strong anti-disturbance capability. In experiments, the scattered light field through ground glass and a polystyrene suspension was modulated, where the polystyrene suspension supported a dynamic random disturbance. It was found that, even if the suspension is too thick to see the ballistic light, the OAA can still modulate the scattered field effectively, while the SAA and GA completely failed. In addition, the OAA is so simple that only addition and comparison are needed, and it can achieve multi-target modulation.

Rapid identification of candidate genes controlling male-sterility in Foxtail millet (Setaria italica).

Photo-(thermo-) sensitive genic male-sterile line is the key component of two-line hybridization system in foxtail millet (Setaria italica), but the genetic basis of male sterility in most male-sterile lines is still unclear. In the present study, a large F2 population was developed derived from a cross between the photo-(thermo-) sensitive male-sterile line A2 and the fertile-line 1484-5. Thirty plants with extreme high and extreme low fertility were selected from the population to construct a sterile DNA pool and a fertile DNA pool, respectively. Sequencing both DNA pools and data analysis revealed that two QTLs conferred male-sterility, qSiMS6.1 with a major effect and qSiMS6.2 with a minor effect, on chromosome 6. Both QTLs exhibited complete dominance. The major QTL, qSiMS6.1, was delimited to a 186-kb interval between the markers SiM20 and SiM9 by the joint analysis of QTL-seq and QTL mapping with SSR and structure variation markers. Millet_GLEAN_10020454 in this region is the most likely candidate gene for qSiMS6.1 since it is predicted to encode a male-sterile 5 like protein. These results lay a solid foundation for qSiMS6.1 cloning and provided gene resources for breeding new male-sterile lines. Supplementary Information: The online version contains supplementary material available at 10.1007/s11032-021-01269-2.

Deciphering language disturbances in schizophrenia: A study using fine-tuned language models.

This research presents two stable language metrics, namely Successful Prediction Rate (SPR) and Disfluency (DF), to objectively quantify the linguistic disturbances associated with schizophrenia. These novel language metrics can capture both off-topic responses and incoherence in patients' speech by modeling speech information and fine-tuning techniques. Additionally, these metrics exhibit cultural sensitivity while providing a more comprehensive evaluation of linguistic abnormalities in schizophrenia. This research fine-tuned the ELECTRA Pretrained Language Model on a 750 MB text corpus obtained from major Chinese mental health forums. The effectiveness of the fine-tuned language model is verified on a group comprising 38 individuals diagnosed with schizophrenia and 25 meticulously matched healthy controls. The study explores the association between the fine-tuned language model and the Positive and Negative Syndrome Scale (PANSS) items. The results demonstrate that SPR is higher in healthy controls, indicating better language understanding by the pre-trained language model. Conversely, DF is higher in individuals with schizophrenia, indicating more inconsistent language structure. The relationship between linguistic features and P2 (conceptual disorganization) reveals that patients with positive P2 exhibit lower SPR and higher DF. Binary logistic regression using the combined SPR and DF features achieves 84.5 % accuracy in classifying P2, exceeding the performance of traditional features by 20.5 %. Moreover, the proposed linguistic features outperform traditional linguistic features in discriminating FTD (formal thought disorder), as demonstrated by multivariate linear regression analysis.

Pterostilbene nanoemulsion promotes Nrf2 signaling pathway to downregulate oxidative stress for treating Alzheimer's disease.

Pterostilbene, a stilbene compound, demonstrates neuroprotective effects through its antioxidant and anti-inflammatory properties. However, pterostilbene exhibits low bioavailability. We developed a pterostilbene nanoemulsion with better release stability and particle size. Behavioral tests, including the Y maze, new object recognition, and water maze, revealed that the pterostilbene nanoemulsion demonstrated a more significant effect on improving learning and memory function than pterostilbene. Immunofluorescence analysis revealed that pterostilbene nanoemulsion was more potent in safeguarding hippocampal neurons and inhibiting apoptosis and oxidative stress than pterostilbene. Further results from the Western blot and quantitative reverse transcription polymerase chain reaction indicated that the enhanced efficacy of pterostilbene nanoemulsion may be attributed to its stronger promotion of the nuclear factor erythroid 2-related factor 2 signaling pathway. Hence, enhanced drug delivery efficiency decreased dosage requirements and increased the bioavailability of pterostilbene, thereby potentially providing a safe, effective, and convenient treatment option for patients with Alzheimer's disease.

Reactive scattering for different isotopologues of the H3(-) system: comparison of different potential energy surfaces.

Reaction probabilities and cross sections for the ion-neutral molecule collision H(-) + H2 and its different isotopologues are presented. Quasi-classical trajectory, time-independent, and time-dependent quantum calculations are compared with experimental results. In the calculations, three different ab initio potentials have been used to clarify their applicability.

The Effect of Nozzle Temperature on the Low-Temperature Printing Performance of Low-Viscosity Food Ink.

Low-temperature food printing technology is used in many fields, such as personalized nutrition, cooking art, food design and medical nutrition. By precisely controlling the deposition temperature of the ink, a food with a finer and more controllable structure can be produced. This paper investigates the influence of nozzle temperature on printing performance via a numerical simulation and experimental research. The results indicate that the ink gradually changed from a granular state to a fLow-characteristic deposition structure when the nozzle temperature increased from 19 °C to 27 °C. When the nozzle temperature exceeded 21 °C, the ink demonstrated excellent extrusion behavior and tended to flow. The widths of the rectangular frame deposition showed no obvious changes and were 4.07 mm, 4.05 mm and 4.20 mm, respectively. The extrusion behavior of the ink showed a structural mutation in the temperature range of 19-21 °C. Its line width changed from 3.15 mm to 3.73 mm, and its deposition structure changed from a grainy shape to a normal shape. Under the influence of different environmental control capabilities, bulk structure deposition demonstrates an ideal printing performance at 21, 23 and 25 °C, and the latter temperature is more suitable in the case of large external interference. The ink flowed violently when the nozzle temperature reached 27 °C, at which point the deposit structure flowed and deformed seriously. On the other hand, evaporation losses had a strong effect on Low-viscosity ink. To reach the full potential of this promising technology, it is necessary to determine the effect of nozzle temperature on printing performance. This article provides a method for developing and applying Low-viscosity, Low-temperature food printing.

A Study of the Gelatin Low-Temperature Deposition Manufacturing Forming Process Based on Fluid Numerical Simulation.

Low-temperature deposition manufacturing has attracted much attention as a novel printing method, bringing new opportunities and directions for the development of biological 3D printing and complex-shaped food printing. In this article, we investigated the rheological and printing properties of gelatin solution and conducted numerical simulation and experimental research on the low-temperature extrusion process of gelatin solution. The velocity, local shear rate, viscosity, and pressure distribution of the material in the extrusion process were calculated using Comsol software. The effects of the initial temperature, inlet velocity, and print head diameter of the material on the flow field distribution and printing quality were explored. The results show that: (1) the fluidity and mechanical properties of gelatin solution vary with its concentration; (2) the initial temperature of material, inlet velocity, and print head diameter all have varying degrees of influence on the distribution of the flow field; (3) the concentration change of the material mainly affects the pressure distribution in the flow channel; (4) the greater the inlet velocity, the greater the velocity and shear rate in the flow field and the higher the temperature of the material in the outlet section; and (5) the higher the initial temperature of the gel, the lower the viscosity in the flow field. This article is of great reference value for the low-temperature 3D printing of colloidal materials that are difficult to form at room temperature.

Solid-in-oil nanodispersion as a novel topical transdermal delivery to enhance stability and skin permeation and retention of hydrophilic drugs l-ascorbic acid.

l-ascorbic acid （Vitamin C, VC） is the most abundant antioxidant in human skin. But its poor penetration into the skin and unstability limit the application. The aim of the study was to promote the topical skin permeation and retention of VC, increase the stability as well as effectiveness by a novel solid in oil nanodispersion. In the nanodispersions system, nano-sized particles of hydrophilic molecules are dispersed in an oil vehicle with the assistance of hydrophobic surfactants. The optimized formula composed of O170 and S1570 (12.5:1, w/w) showed high EE% of 98% and good stability. FTIR analysis confirmed that there may be hydrogen bond between VC and surfactants. The results of DSC, and XRD revealed that the drug was successfully encapsulated in the surfactants, which maintained the stability of drug. By analyzing and fitting the release data in vitro, the drug release mechanism of SONDs was predicted as a multi-dynamic model. Skin permeation of VC was improved 3.43-fold for SONDs compared with VC aqueous solution, highlighting that the lipophilicity and nano size of the carrier more easily penetrated into the skin. Finally, the photoaging study revealed that topical application of VC-SONDs provided the highest skin protection compared UV and VC aqueous solution treated group which was evident by the normal thick epidermal morphology, no obvious melanocytes and the densely arranged dermal elastic fibers. These results demonstrated that the solid-in-oil nanodispersions may be a potential transdermal delivery system for hydrophilic bioactive ingredients.

Inhibition of TLR4 Signaling by Isorhapontigenin Targeting of the AHR Alleviates Cerebral Ischemia/Reperfusion Injury.

Ischemic stroke is a major risk factor in human health, yet there are no drugs to cure cerebral ischemia/reperfusion injury (CIRI). Inflammation plays a fundamental role in the consequences of CIRI. Isorhapontigenin (ISOR) exhibits great anti-inflammatory activity; however, it is unclear whether ISOR can treat ischemic stroke through an anti-inflammation effect. Here, middle cerebral artery occlusion/reperfusion (MCAO/R) was used to investigate the effects of ISOR on CIRI. The in vitro activity was measured in BV-2 cells exposed to oxygen-glucose deprivation/reperfusion. As measured by neurological scores, brain water content, and infarction, neurological dysfunction was improved in the ISOR group. The neuronal death and microglial activation in the ipsilateral cortex were reduced by ISOR. TLR4 signaling was significantly inhibited by ISOR in vivo and in vitro. By reverse molecular docking, cellular thermal shift, and drug affinity-responsive target stability assays, an aryl hydrocarbon receptor (AHR) was found to be a target of ISOR. Furthermore, AHR knockdown blocked the effect of ISOR on TLR4 signaling, suggesting that ISOR may regulate TLR4-mediated inflammation through AHR, thereby protecting neurons from CIRI. This study demonstrated that ISOR is a promising drug candidate for the treatment of ischemic stroke and provided a theoretical basis for the development of the medicinal value of ISOR-derived foods, such as grapes.

Metabolomic analysis of gut metabolites in patients with colorectal cancer: Association with disease development and outcome.

Colorectal cancer (CRC) is one of the leading global malignancies with low 5-year survival and high mortality rates. Despite extensive research, the precise role of gut metabolites in CRC development and clinical outcomes remains unclear, while its elucidation may aid the development of improved clinical diagnosis and treatment options. In the present study, targeted metabolomic analysis was conducted on fecal samples from 35 patients with CRC, 37 patients with colorectal adenoma and 30 healthy controls (HC) to identify metabolite biomarkers. Using orthogonal partial least squares discriminant analysis, metabolomic features distinguishing the three groups were identified. Receiver operating characteristic (ROC) curve analysis was used to assess diagnostic utility for distinguishing CRC from HC. The association of gut metabolites with survival in patients with CRC was also analyzed by comparing short-term survivors (STS) and long-term survivors (LTS), and the prognostic ability of metabolites was predicted using Cox regression and Kaplan-Meier analysis. The results of the current study showed that the enriched pathways in CRC included 'caffeine metabolism', 'thiamine metabolism', 'phenylalanine, tyrosine and tryptophan biosynthesis' and 'phenylalanine metabolism'. ROC analysis found that 9,10-dihydroxy-12-octadecenoic acid, cholesterol ester (18:2) and lipoxinA4 distinguished CRC from HC. Joint quantification of these three metabolites resulted in an area under the ROC curve of 0.969 in the diagnosis of CRC. The analysis of the current study also showed that the expression of metabolites involved in 'sphingolipid metabolism' was mainly dysregulated in LTS and STS, while N-acetylmannosamine and 2,5-dihydroxybenzaldehyde were associated with better overall survival. In conclusion, the present study provided preliminary insight into the metabolic changes associated with CRC and may have important implications for the development of future diagnostic and treatment strategies.

Pterostilbene participates in TLR4- mediated inflammatory response and autophagy-dependent Aß1-42 endocytosis in Alzheimer's disease.

BACKGROUND: Alzheimer's disease (AD), the most prevalent form of dementia, remains untreatable. One of the factors that contributes to its progression is microglia-mediated inflammation. Pterostilbene, a compound isolated from Chinese dragon's blood, can reduce inflammation caused by overactive microglia. However, its effects on AD transgenic animals and the possible underlying mechanism remain unknown. METHODS: We evaluated the effect of pterostilbene on learning and memory difficulties in transgenic APP/PS1 mice. We used immunofluorescence to detect microglial activation and Aß aggregation. We explored the cellular mechanism of pterostilbene by establishing LPS- stimulated BV2 cells and oAß1-42- exposed HEK 293T cells that overexpress TLR4 and/or MD2 via lentivirus. We applied flow cytometry and immunoprecipitation to examine how pterostilbene regulates TLR4 signaling. RESULTS: Pterostilbene enhanced the learning and memory abilities of APP/PS1 mice and reduced microglial activation and Aß aggregation in their hippocampus. Pterostilbene alleviated oAß1-42-induced inflammation, which required the involvement of MD2. Pterostilbene disrupted the binding between TLR4 and MD2, which may further prevent TLR4 dimerization and subsequent inflammatory response. Moreover, pterostilbene restored the impaired endocytosis of oAß1-42 through an autophagy-dependent mechanism. CONCLUSION: This is the first demonstration that pterostilbene can potentially treat AD by blocking the interaction of TLR4 and MD2, thereby suppressing TLR4-mediated inflammation.

A Real-world Dataset and Benchmark For Foundation Model Adaptation in Medical Image Classification.

Foundation models, often pre-trained with large-scale data, have achieved paramount success in jump-starting various vision and language applications. Recent advances further enable adapting foundation models in downstream tasks efficiently using only a few training samples, e.g., in-context learning. Yet, the application of such learning paradigms in medical image analysis remains scarce due to the shortage of publicly accessible data and benchmarks. In this paper, we aim at approaches adapting the foundation models for medical image classification and present a novel dataset and benchmark for the evaluation, i.e., examining the overall performance of accommodating the large-scale foundation models downstream on a set of diverse real-world clinical tasks. We collect five sets of medical imaging data from multiple institutes targeting a variety of real-world clinical tasks (22,349 images in total), i.e., thoracic diseases screening in X-rays, pathological lesion tissue screening, lesion detection in endoscopy images, neonatal jaundice evaluation, and diabetic retinopathy grading. Results of multiple baseline methods are demonstrated using the proposed dataset from both accuracy and cost-effective perspectives.

Low-frequency repetitive transcranial magnetic stimulation for the treatment of refractory partial epilepsy: a controlled clinical study.

PURPOSE: This study was designed to evaluate the therapeutic effect of low-frequency repetitive transcranial magnetic stimulation (rTMS) on patients with refractory partial epilepsy. METHODS: Sixty-four patients with refractory focal epilepsy were screened and 60 patients were randomly divided into two groups by stimulation intensity: 90% (group 1) or 20% (group 2) of resting motor threshold (rMT). Seizure frequency and interictal EEG epileptic discharges were compared between the baseline and follow-up periods. KEY FINDINGS: Seizures significantly decreased following 2-weeks high intensity (90% rMT) rTMS treatment compared with baseline level (p < 0.05). rTMS also decreased interictal epilepsy discharges and improved the scales of Symptom Checklist-90 significantly (p < 0.05). Seizures and spikes in the follow-up period in the patients who received low intensity (20% rMT) rTMS did not show any difference compared with baseline data (p > 0.05, respectively). SIGNIFICANCE: Low-frequency high intensity rTMS (90% rMT) delivered into the epileptogenic zone had a significant antiepileptic effect on patients with refractory partial seizures. rTMS treatment can also reduce the interictal epileptic discharge frequency and improve the psychological condition of these patients.

Accurate Adiabatic and Diabatic Potential Energy Surfaces for the Reaction of He + H2.

The accurate adiabatic and diabatic potential energy surfaces, which are for the two lowest states of He + H2, are presented in this study. The Molpro 2012 software package is used, and the large basis sets (aug-cc-pV5Z) are selected. The high-level MCSCF/MRCI method is employed to calculate the adiabatic potential energy points of the title reaction system. The triatomic reaction system is described by Jacobi coordinates, and the adiabatic potential energy surfaces are fitted accurately using the B-spline method. The equilibrium structures and electronic energies for the H2 are provided, and the corresponding different levels of vibrational energies of the ground state are deduced. To better express the diabatic process of the whole reaction, avoid crossing points being calculated and conical intersection also being optimized. Meanwhile, the diabatic potential energy surfaces of the reaction process are constructed. This study will be helpful for the analysis of histopathology and for the study in biological and medical mechanisms.

The Reaction Mechanism Study for the F3 System.

In order to study the F3 system, an accurate global adiabatic potential energy surface is reduced in the present work. The high-level ab initio (MCSCF/MRCI level) methods with big basis set aVQZ are used to calculate 27690 potential energy points in the MOLPRO quantum chemistry package using the Jacobi coordinate. Meanwhile, the B-spline fit method is used to reduce the global potential energy surface in this present work. The shallow well complexes are found in the present work when the angles θ = 30°, 60°, and 90°. Analysing the global potential energy surfaces can get the conclusion that reactants should overcome at least 0.894 eV energy to cross the transition state and reach products. This study will be helpful for the analysis in histopathology and for the study of biological and medical mechanisms.

Dietary Antioxidant-Constructed Nanodrugs Can High-Efficiently Kill Cancer Cells while Protecting Noncancer Cells.

Despite great advances, the development of cancer drugs that can efficiently kill cancer cells while protecting noncancer cells has not been achieved. By using only dietary antioxidants vitamin C (VC) and (R)-(+)-lipoic acid (LA), we herein develop a nanodrug VC@cLAV featuring the above function. After entering cells, cLAV dissociates into LA and DHLA (dihydrolipoic acid, reduced form of LA) and releases VC and DHA (dehydroascorbate, oxidized form of VC). In cancer cells, the two redox pairs recycle each other and dramatically promote the intracellular reactive oxygen species production to kill cancer cells at low doses comparable to cytotoxic drugs. Oppositely in noncancer cells, the LA/DHLA and VC/DHA pairs exert anti-oxidant action to actively protect the organism by preventing the normal cells from oxidative stress and repairing cells suffering from oxidative stress. When compared with the first-line cytotoxic drug, VC@cLAV displayed superior therapeutic outcomes yet without side effects in diverse tumor models including patient-derived xenograft (PDX). This drug with efficient cancer cell killing and noncancer cell protection represents a new cancer therapy.

QTL analysis of important agronomic traits and metabolites in foxtail millet (Setaria italica) by RIL population and widely targeted metabolome.

As a bridge between genome and phenotype, metabolome is closely related to plant growth and development. However, the research on the combination of genome, metabolome and multiple agronomic traits in foxtail millet (Setaria italica) is insufficient. Here, based on the linkage analysis of 3,452 metabolites via with high-quality genetic linkage maps, we detected a total of 1,049 metabolic quantitative trait loci (mQTLs) distributed in 11 hotspots, and 28 metabolite-related candidate genes were mined from 14 mQTLs. In addition, 136 single-environment phenotypic QTL (pQTLs) related to 63 phenotypes were identified by linkage analysis, and there were 12 hotspots on these pQTLs. We futher dissected 39 candidate genes related to agronomic traits through metabolite-phenotype correlation and gene function analysis, including Sd1 semidwarf gene, which can affect plant height by regulating GA synthesis. Combined correlation network and QTL analysis, we found that flavonoid-lignin pathway maybe closely related to plant architecture and yield in foxtail millet. For example, the correlation coefficient between apigenin 7-rutinoside and stem diameter reached 0.98, and they were co-located at 41.33-44.15 Mb of chromosome 5, further gene function analysis revealed that 5 flavonoid pathway genes, as well as Sd1, were located in this interval . Therefore, the correlation and co-localization between flavonoid-lignins and plant architecture may be due to the close linkage of their regulatory genes in millet. Besides, we also found that a combination of genomic and metabolomic for BLUP analysis can better predict plant agronomic traits than genomic or metabolomic data, independently. In conclusion, the combined analysis of mQTL and pQTL in millet have linked genetic, metabolic and agronomic traits, and is of great significance for metabolite-related molecular assisted breeding.

Circular RNA mmu_circ_0001598 Contributes to IL-1ß-Induced Osteoarthritis Progression by Regulating miR-127-3p.

Osteoarthritis (OA), a chronic disease characterized by articular cartilage degeneration, is a leading cause of disability and pain worldwide. Accumulating evidence indicates that circular RNAs (circRNAs) play a critical role in various diseases, but the function of circRNAs in OA remains largely unknown. In this study, we found that circ_0001598 was significantly upregulated in chondrocytes treated with IL-1ß and in cartilage tissue from mice with severed anterior cruciate ligament surgery (ACLT) induced OA models. Interference with circ_0001598 in vitro restored IL-1ß-induced chondrocyte proliferation and apoptosis. Silencing circ_0001598 significantly alleviated ACLT-induced OA in mice. Mechanistically, knockdown of circ_0001598 affected chondrocyte proliferation, apoptosis, and matrix degradation by regulating miR-127-3p. Taken together, our results demonstrate the fundamental role of circ_0001598 and provide new ideas for the prevention and treatment of osteoarthritis.

Comprehensive genetic, clinical and electrophysiological studies of familial cortical myoclonic tremor with epilepsy 1 highlight the role of gene configurations.

OBJECTIVES: Two configurations of TTTTA/TTTCA expansion in SAMD12 have been identified in familial cortical myoclonic tremor with epilepsy type 1 (FCMTE1). This study investigated the clinical and neurophysiological features of FCMTE1 and their association with TTTTA/TTTCA expansion patterns. METHODS: In total, 76 patients from 20 Chinese pedigrees were enrolled. Genetic (TTTTA/TTTCA configuration), clinical (e.g., onset, medication, prognosis, and anticipation) and neurophysiological examination (e.g., electroencephalogram and magnetoencephalography) data were evaluated, and associations between these parameters were analyzed. RESULTS: All patients carried the TTTTA/TTTCA expansion mutation, 19 displayed the (TTTTA)exp(TTTCA)exp (type I) configuration and 1 displayed the (TTTTA)exp (TTTCA)exp(TTTTA)exp (type II) configuration. All patients manifested as progressive tremor, but symptoms of patients carrying type II expansion were more severe. The onset of tremor but not generalized tonic and clonic seizures displayed clinical anticipation between generations of 7 pedigrees, but the pedigree carrying the type II mutation did not show anticipation. Nanopore sequencing showed that the repeats expanded during maternal/offspring transmission (pedigree #7) but shrank during paternal/offspring transmission (pedigree #9). Magnetoencephalographic dipoles were localized in the right frontal lobe near the central sulcus in 4 patients carrying the type I mutation and on the left side in one patient carrying the type II mutation. SIGNIFICANCE: We confirmed the causative roles played by TTTTA/TTTCA repeat expansion in the SAMD12 gene in FCTME1. Both the length and the configuration of the repeats contribute to the clinical and neurophysiological characteristics of the disease.