Efficacy and safety of stereoelectroencephalography (SEEG)-guided radiofrequency thermocoagulation (RF-TC) in the treatment of paediatric drug-resistant epilepsy: A retrospective analysis.

INTRODUCTION: This investigation evaluates the effectiveness and safety of stereoelectroencephalography (SEEG)-guided radiofrequency thermocoagulation (RF-TC) as a treatment modality for drug-resistant epilepsy. MATERIAL AND METHODS: A retrospective review of clinical data from 40 paediatric patients with drug-resistant epilepsy, who underwent SEEG-guided RF-TC at our Epilepsy Center between 2020 and 2022, was conducted. This review included the patients' medical history, imaging and electroencephalography results, surgical procedures, and follow-up outcomes. RESULTS: The duration of SEEG monitoring, accompanied by concurrent electrical stimulation tests, varied from 3 days to 4 weeks. Following RF-TC surgery, 4 patients demonstrated temporary neurological impairments, including central facial and tongue weakness, reduced limb strength, and challenges in fine motor hand movements. All these symptoms were related to lesions in the central region, but showed improvement within 2 weeks to 3 months post-surgery. There were no reported instances of status epilepticus, intracranial haemorrhage, or infections. During a follow-up period of 6 months to 2.5 years, seizure control was achieved in 25 patients (62.5%) at 6 months post-surgery, and a > 50% decrease in seizure frequency was observed in 10 patients. In 5 patients where seizure control was not achieved, the management of epilepsy seemed to be independent of factors such as age at surgery, duration of preoperative disease, seizure type, or negative MRI findings ( p > 0.05). Patients with controlled epilepsy exhibited cognitive improvement, with some demonstrating no EEG abnormalities upon follow-up and a decrease in antiepileptic medication. CONCLUSIONS: SEEG-guided RF-TC appears to be a potentially effective and safe therapeutic approach for paediatric patients with drug-resistant epilepsy.

Preliminary analysis of the effect of vagus nerve stimulation in the treatment of children with intractable epilepsy.

BACKGROUND: Implant vagus nerve stimulation is an adjunctive treatment for intractable epilepsy when patients are not suitable for resective surgery. AIM: To identify the safety and efficacy of vagus nerve stimulation in children with intractable epilepsy and analyze the effects on different epilepsy syndromes. METHODS: Eligible children with intractable epilepsy were admitted to the study. We collected data from preoperative assessments as the baseline. During the follow-up time, we recorded the process of seizures (frequency, duration, and seizure type), the changes of drugs or parameters, the complications, etc. The mean reduction rate of seizures, response rate, and McHugh scale were chosen as the outcomes. RESULTS: A total of 213 patients were implanted with Tsinghua Pins vagus nerve stimulators, and the average age was 6.6 years. In the follow-up time of postoperative 3 mo, 6 mo, 12 mo, 18 mo, and 24 mo, the average reduction rate was 30.2%, 49.5%, 56.3%, 59.4%, and 63.2%, while the response rate was 21.8%, 62.5%, 57.1%, 69.2%, and 70.7%. In addition, implanted vagus nerve stimulation had different effects on epilepsy syndromes. The reduction rate of West syndrome increased from 36.4% (postoperative 6 m) to 74.3% (postoperative 24 m). The reduction rate of Lennox-Gastaut syndrome improved from 25.4% to 73.1% in 24 mo. The chi-square test of the five efficacy grades showed P < 0.05. The comparison between the 3-mo follow-up and the 6-mo follow-up showed P < 0.05, and the comparison between the 6-mo follow-up and the 24-mo follow-up showed P > 0.05. CONCLUSION: Vagus nerve stimulation is safe and effective in children with intractable epilepsy, and the seizure reduction occurred in a time-dependent manner. Moreover, patients with West syndrome may get the most benefits.

Clinical phenotypes, genotypes and treatment in Chinese dystonia patients with KMT2B variants.

BACKGROUND: KMT2B-related dystonia is a recently discovered hereditary dystonia that mostly occurs in childhood. This dystonia usually progresses to generalized dystonia with cervical, cranial, pharynx and larynx involvement. Our study summarizes genotype-phenotype features and deep brain stimulation (DBS) efficacy observed with KMT2B-related dystonia patients in China. METHODS: We identified 20 patients with KMT2B variations from dystonia samples with a gene panel and whole exome sequencing. Genetic, clinical and treatment analyses of these patients with KMT2B mutations were further conducted. RESULTS: We summarized the genotype and phenotypic characteristics of KMT2B-related patients in China, including 16 sporadic patients and 3 pedigrees (including 4 patients). Thirty-five percent (7/20) of patients had been published previously. The age of onset was between 1 month and 24 years (average 6.90 ± 5.72 years). Sixty-five percent (13/20) of patients had onset from lower limbs. Upper limbs or larynx accounted for 15% (3/20) and 20% (4/20) of patients, respectively. In the same family, male patients tended to have more severe symptoms than female patients. Carriers of KMT2B variants may present with nonmotor symptoms without dystonia. Abnormal endocrine metabolism could also be seen in our patients, including advanced bone age that had never been reported previously. Nine of our patients underwent DBS surgery. The mean follow-up time was 4.9 (range 1.3-16) months after DBS, and perceptible improvement of clinical symptoms were observed. CONCLUSIONS: The genotypic and phenotypic spectra of Chinese KMT2B-related dystonia patients were further expanded. DBS surgery might be the preferred option for severe KMT2B-related dystonia patients till now.

Antagonistic muscle prefatigue weakens the functional corticomuscular coupling during isometric elbow extension contraction.

OBJECTIVE: During muscle fatigue, acute changes in the interaction between the sensorimotor cortex and peripheral neurons have been widely studied. However, it is still unclear about the effect of antagonist muscle prefatigue on corticomuscular coupling and central modulation. The purpose of this study was to investigate the changes in the magnitude of electroencephalogram-electromyography (EEG-EMG) coherence and phase synchronization index (PSI) induced by antagonistic muscle prefatigue. METHODS: Twelve young male volunteers conducted a 30-s long, nonfatiguing isometric elbow extension with a target force level of 20% maximum voluntary contraction (MVC) before and after a fatiguing sustained elbow flexion contraction at 20% MVC until task failure. Coherence and PSI between the EEG recorded over the sensorimotor cortex and the surface EMG of the triceps brachii (TB) muscle were quantified for the pre- and post-fatigue elbow extension contractions. RESULTS: Coherence and PSI in the gamma frequency band (35-60 Hz) were found significantly decreased in the postfatigue elbow extension contraction than the prefatigue contraction. The power of the EEG in the beta and gamma band were significantly increased, while the EMG power showed no significant changes when the antagonistic muscle was prefatigued. PSI in the gamma frequency band between the EMG of the TB muscle and the EEG were found significantly decreased during postfatigue elbow extension contraction compared with prefatigue contraction. CONCLUSION: Antagonistic muscle prefatigue led to significantly lower gamma band corticomuscular coherence and phase coupling during an isometric elbow extension position task. The lower corticomuscular coupling may indicate a central modulation mechanism of antagonist muscle prefatigue that related to decreased descending common drive or joint instability compensation modulation mechanism.

[Act of Arc siRNA via lentivirus on the memory consolidation of amygdala-kindled rats].

OBJECTIVE: To explore the memory consolidation related role of gene Arc in amygdala-kindled rats. METHODS: A total of 60 male amygdala-kindled rats were divided equally into 3 groups: 0.9% sodium chloride injection, null vector lentivirus injection and silencing lentivirus injection. Quantitative polymerase chain reaction (qPCR) and Western blot were performed to confirm the silencing efficiency of Arc. And the passive avoidance test and Morris' water maze were used to test the memory consolidation ability of rats in three groups. RESULTS: The memory consolidation ability became significantly impaired in the Arc silencing group in both of passive avoidance test and water maze comparing to the other groups. And no significant difference existed in memory consolidation ability between 0.9% sodium chloride and null vector lentivirus injection groups. CONCLUSION: The ability of memory consolidation is impaired in Arc silencing amygdala-kindled rats and Arc may play a significant role in the consolidation of memory in amygdala-kindled rats.

Intracranial transplant of olfactory ensheathing cells in children and adolescents with cerebral palsy: a randomized controlled clinical trial.

Successful repair of damage in cerebral palsy (CP) needs effective clinical interventions other than simply symptomatic treatments. To elucidate the feasibility of using olfactory ensheathing cells (OECs) to treat CP in children and adolescents, we conducted a randomized controlled clinical trial (RCT) on 33 patients. The patients were randomly assigned into two groups (treatment group, n = 18; control group, n = 15), and OECs derived from aborted fetal tissue were injected into the bilateral corona radiata in the frontal lobes (a key point for neural network restoration, KPNNR). The Gross Motor Function Measure (GMFM-66) and the Caregiver Questionnaire Scale were used to evaluate the patients' neurological function and overall health status. Among the 14 patients who completed the 6-month study, six received the cell transplantation and the other eight served as controls. In OEC treatment group, GMFM-66 scores were 26.67 +/- 25.33 compared with 19.00 +/- 20.00 for the control group. Concurrently, the Caregiver Questionnaire Scale score decreased to 77.83 +/- 15.99 in the treatment group in comparison to 138.66 +/- 64.06 of the control group. This trial, albeit small in sample size, indicates OEC KPNNR transplantation is effective for functional improvement in children and adolescents with CP, yet without obvious side effects. This small-scale study suggests that the procedure may be a plausible alternative method to treat this not yet curable disorder, and we urge further evaluation with a large-scale RCT.