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.

[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.