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Genetic developmental and epileptic encephalopathies (DEE) are often associated with movement disorders. Accurate identification and classification of movement disorders are essential for management of these diseases. In this review, we describe the characteristics of various movement disorders associated with DEE and summarize the distribution of common DEE-related gene mutations reported in previous studies, aiming to provide references for the diagnosis and treatment of these disorders. [ABSTRACT FROM AUTHOR]

Introduction: Excessive alcohol consumption negatively impacts physical and psychiatric health, lifestyle, and societal interactions. Chronic alcohol abuse alters brain structure, leading to alcohol use disorder (AUD), a condition requiring early diagnosis for effective management. Current diagnostic methods, primarily reliant on subjective questionnaires, could benefit from objective measures. Method: The study proposes a novel EEG-based classification approach, focusing on effective connectivity (EC) derived from resting-state EEG signals in combination with support vector machine (SVM) algorithms. EC estimation is performed using the partial directed coherence (PDC) technique. The analysis is conducted on an EEG dataset comprising 35 individuals with AUD and 35 healthy controls (HCs). The methodology evaluates the efficacy of connectivity features in distinguishing between AUD and HC and subsequently develops and assesses an EEG classification technique using EC matrices and SVM. Result: The proposed methodology demonstrated promising performance, achieving a peak accuracy of 94.5% and an area under the curve (AUC) of 0.988, specifically using frequency bands 29, 36, 45, 46, and 52. Additionally, feature reduction techniques applied to the PDC adjacency matrices in the gamma band further improved classification outcomes. The SVM-based classification achieved an accuracy of 96.37 ± 0.45%, showcasing enhanced performance through the utilization of reduced PDC adjacency matrices. Discussion: These results highlight the potential of the developed algorithm as a robust diagnostic tool for AUD detection, enhancing precision beyond subjective methods. Incorporating EC features derived from EEG signals can inform tailored treatment strategies, contributing to improved management of AUD. [ABSTRACT FROM AUTHOR]

The European Commission mandated EFSA to assess the toxicity of bromide, the existing maximum residue levels (MRLs), and possible transfer from feed into food of animal origin. The critical effects of bromide in experimental animals are on the thyroid and central nervous system. Changes in thyroid hormone homeostasis could result in neurodevelopmental toxicity, among other adverse effects. Changes in thyroid hormone concentrations and neurophysiological parameters have also been observed in experimental human studies, but the evidence was limited. Dose--response modelling of decreased blood thyroxine concentrations in rats resulted in a reference point of 40 mg/kg body weight (bw) per day. The Scientific Committee established a tolerable daily intake (TDI) of 0.4 mg/kg bw per day and an acute reference dose (ARfD) of 0.4 mg/kg bw per day to protect against adverse neurodevelopmental effects. The TDI value is supported by the results of experimental human studies with a NOAEL of 4 mg/kg bw per day and 10-fold interindividual variability. The TDI and ARfD are considered as conservative with 90% certainty. Insufficient evidence related to the toxicological effects of bromide was available for animals, with the exception of dogs. Therefore, the reference point of 40 mg/kg bw per day was extrapolated to maximum safe concentrations of bromide in complete feed for other animal species. Bromide can transfer from feed to food of animal origin, but, from the limited data, it was not possible to quantify the transfer rate. Monitoring data exceeded the current MRLs for some food commodities, generally with a low frequency. A conservative safety screening of the MRLs indicated that the TDI and ARfD are exceeded for some EU diets. Dietary exposure assessment for animals was not feasible due to insufficient data. The Scientific Committee recommends data be generated to allow robust dietary exposure assessments in the future, and data that support the risk assessment. [ABSTRACT FROM AUTHOR]

Background: Pathogenic DNM1 variants cause early-onset developmental and epileptic encephalopathy (DEE). The GTPase domain of the DNM1 protein has the most commonly affected sites., Aim: This study aimed to delineate additional patients with DNM1-related disorders harboring novel GTPase domain variants., Methods: Trio whole-exome sequencing was performed on three Chinese probands with suspected encephalopathy, and Sanger sequencing was used to confirm the variants. Detailed evaluations were used to assess clinical features. Variant plasmids were constructed in vitro and transfected into cells, and the expression of mutant proteins was evaluated using western blotting (WB)., Results: Three de novo heterozygous DNM1 variants were detected in the GTPase domain, namely, NM_004408.4: c.112_120delinsAGCGGCCAC, (p.Gly38_Gln40delinsSerGlyHis), c.457G > A, (p.Glu153Lys), and c.193 A > C, (p.Thr65Pro) in Patients 1, 2, and 3, respectively. Patients 2 and 3 exhibited typical DEE phenotypes with early-onset refractory seizures, profound developmental impairment, intellectual disability, and abnormal electroencephalography findings. However, Patient 1 did not have seizures and her clinical symptoms were autism features, mild hearing loss, subtle changes in the brain, and developmental delays. WB indicated that the expression of plasmids carrying the p.Thr65Pro and p.Glu153Lys variants was not significantly different from that in the wild-type control group and that the expression of the p.Gly38_Gln40delinsSerGlyHis plasmid was elevated., Conclusions: This study expands the genetic and phenotypic spectrum of DNM1-associated disorders and reveals that de novo pathogenic variants in the GTPase domain can lead to divergent neurological outcomes ranging from infantile epileptic encephalopathy syndromes to predominant developmental delays without seizures., Competing Interests: Declarations. Ethical approval: The study was approved by the ethics committee of the Hunan Children’s Hospital. Written informed consent was provided by the participant. Consent for publication: Written informed consent for publication was obtained from all participants. Conflict of interest: No potential conflicts of interest were declared by the authors., (© 2024. Fondazione Società Italiana di Neurologia.)

Seizure detection devices (SDDs) offer promising technological advancements in epilepsy management, providing real-time seizure monitoring and alerts for patients and caregivers. This critical review explores user perspectives and experiences with SDDs to better understand factors influencing their adoption and sustained use. An electronic literature search identified 34 relevant studies addressing common themes such as usability, motivation, comfort, accuracy, barriers, and the financial burden of these devices. Usability emerged as the most frequently discussed factor, with patients and caregivers also emphasizing the importance of ease of use, long battery life, and waterproof design. Although validated devices showed high user satisfaction, technical challenges, false negatives, and false positives need much improvement. Motivation to use SDDs was driven by enhanced safety, symptom tracking, and health care professional recommendations. Comfort and wearability were also critical aspects, with users favoring lightweight, breathable, and discreet designs for long-term wear. Users reported the devices as "comfortable" and preferring wrist or arm-worn devices for the long term. Accuracy-particularly minimizing false positives and false negatives-was a priority for users. Barriers to adoption included device cost, limited insurance reimbursement, discomfort, and concerns about data privacy. Despite these challenges, many users were willing to use SDDs. Recommendations from health care professionals significantly increased user motivation. This review highlights the need for SDD designs that address user concerns regarding usability, comfort, looks, and accuracy, while also reducing financial and technical barriers. Enhancing clinical involvement and tailoring devices to specific patient needs may be crucial to promoting wider SDD adoption. Further research is needed to evaluate the impact of SDDs on quality of life and to explore ways to mitigate challenges in long-term use., (© 2025 The Author(s). Epilepsia published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.)

We propose and prioritize important outcome domains that should be considered for future research investigating long-term outcomes (LTO) after new onset refractory status epilepticus (NORSE). The study was led by the international NORSE Institute LTO Working Group. First, literature describing the LTO of NORSE survivors was identified using a PubMed search and summarized to identify knowledge gaps. Subsequently, a consensus-building process was performed to prioritize and rank important LTO domains for further research. The prioritization of LTO domains was qualitative, enabling the expert panel to generate ideas, share opinions, and provide reasons for the rankings. A second round took place to allow expansion and agreement regarding specific details for each domain. Outcomes were classified into eight main domains: (1) Function: Neuropsychological, Neurological (other than seizures), and Psychiatric (mood and behavior); (2) Quality of Life; (3) Epilepsy; (4) Nonneurological (medical); (5) Social; (6) Caregiver Burden; (7) Long-Term Mortality; and (8) Health Care System Impact. In addition, the working group suggested obtaining outcome measures for each domain at 6 months and 1 year after discharge and annually thereafter until stability has been reached. There are no currently established time frames set for when LTO in NORSE begin or plateau, and previously there existed no consensus regarding which LTO should be considered. This consensus process identifies and recommends NORSE LTO domains that should be considered in future research studies to provide more consistent results that can be compared between studies. Survivors of NORSE should be evaluated serially and at fixed points over time to maximize our understanding of the recovery trajectory for all LTO domains. Establishing reliable and standardized data describing LTO (beyond seizures) after NORSE will support discussions with families during the acute stages, prognostication, the development of targeted management strategies for survivors, and future comparative research globally helping to identify biomarkers that may predict LTO., (© 2025 The Author(s). Epilepsia published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.)

This study intents to detect graphical network features associated with seizure relapse following antiseizure medication (ASM) withdrawal. Twenty-four patients remaining seizure-free (SF-group) and 22 experiencing seizure relapse (SR-group) following ASM withdrawal as well as 46 matched healthy participants (Control) were included. Individualized morphological similarity network was constructed using T1-weighted images, and graphic metrics were compared between groups. Relative to the Control, the SF-group exhibited lower local efficiency, while the SR-group displayed lower global and local efficiency and longer characteristic path length. Both patient groups displayed reduced centrality in certain subcortical and cortical nodes than the Control, with a more pronounced reduction in the SR-group. Additionally, the SR-group exhibited lower centrality of the right pallidum than the SF-group. Decreased subcortical-cortical connectivity was found in both patient groups than the Control, with a more extensive decrease in the SR-group. Furthermore, an edge connecting the right pallidum and left middle temporal gyrus exhibited decreased connectivity in the SR-group than in the SF-group. A weaker small-worldization network upon medication withdrawal, potentially underpinned by node decentralization and subcortical-cortical decoupling, may elevate the risk of seizure relapse., Competing Interests: Declarations. Ethical approval: This study was approved by the Ethics Committee of the West China Hospital of Sichuan University. Informed consent: Informed consent was obtained from all participants or their guardians. Conflict of interest: The authors declare no competing interests., (© 2024. Fondazione Società Italiana di Neurologia.)

The α4β2 nAChRs are crucial ion channels that control neurotransmitter release and play a role in various physiologic and pathologic processes. CHRNA4 encodes the α4-nAChRs, while CHRNB2 encodes the β2-nAChRs. Recent studies have found different variants of α4β2-nAChRs in individuals with conditions such as AD, ADHD, ALS, PD, and brain abnormalities. We conducted a scoping review following a six-stage methodology structure and adhering to PRISMA guidelines. We systematically reviewed articles using relevant keywords up to October 2, 2023. In this summary, we cover the clinical symptoms reported, the genes and protein structure of CHRNA4 and CHRNB2, mutations in these genes, inheritance patterns, the functional impact of mutations and polymorphisms in CHRNA4 and CHRNB2, and the epidemiology of these diseases. Recent research indicates that nAChRs may play a significant role in neurodegenerative disorders, possibly impacting neuronal function through yet undiscovered regulatory pathways. Studying how nAChRs interact with disease-related aggregates in neurodegenerative conditions may lead to new treatment options for these disorders., (© 2024 International Society for Neurochemistry.)