Spinal nerve injury causes mechanical allodynia and structural imbalance of neurotransmission, which were typically associated with calcium overload. Storeoperated calcium entry (SOCE) is considered crucial elements-mediating intracellular calcium homeostasis, ion channel activity, and synaptic plasticity. However, the underlying mechanism of SOCE in mediating neuronal transmitter release and synaptic transmission remains ambiguous in neuropathic pain. Neuropathic rats were operated by spinal nerve ligations. Neurotransmissions were assessed by whole-cell recording in substantia gelatinosa. Immunofluorescence staining of STIM1 with neuronal and glial biomarkers in the spinal dorsal horn. The endoplasmic reticulum stress level was estimated from qRT-PCR. Intrathecal injection of SOCE antagonist SKF96365 dose-dependently alleviated mechanical allodynia in ipsilateral hind paws of neuropathic rats with ED 50 of 18 μg. Immunofluorescence staining demonstrated that STIM1 was specifically and significantly expressed in neurons but not astrocytes and microglia in the spinal dorsal horn. Bath application of SKF96365 inhibited enhanced miniature excitatory postsynaptic currents in a dosage-dependent manner without affecting miniature inhibitory postsynaptic currents. Mal-adaption of SOCE was commonly related to endoplasmic reticulum (ER) stress in the central nervous system. SKF96365 markedly suppressed ER stress levels by alleviating mRNA expression of C/ EBP homologous protein and heat shock protein 70 in neuropathic rats. Our findings suggested that nerve injury might promote SOCE-mediated calcium levels, resulting in long-term imbalance of spinal synaptic transmission and behavioral sensitization, SKF96365 produces antinociception by alleviating glutamatergic transmission and ER stress. This work demonstrated the involvement of SOCE in neuropathic pain, implying that SOCE might be a potential target for pain management.

OBJECTIVES: To study the efficacy and safety of domestic generic levetiracetam in replacement of brand-name levetiracetam in the treatment of children with epilepsy. METHODS: A retrospective analysis was performed on the medical data of 154 children with epilepsy who received domestic generic levetiracetam in the inpatient or outpatient service of Guangdong Provincial People's Hospital from May 2019 to December 2020. Domestic generic levetiracetam and brand-name levetiracetam were compared in terms of efficacy and safety. RESULTS: For these 154 children, the epilepsy control rate was 77.3% (119/154) at baseline. At 6 months after switching to domestic generic levetiracetam, the epilepsy control rate reached 83.8% (129/154), which showed a significant increase (P<0.05). There was no significant change in the frequency of seizures from baseline to 6 months after switching (P>0.05). The incidence of refractory epilepsy in children with no response after switching treatment was significantly higher than that in children with response (P<0.05). Before switching, only 1 child (0.6%) experienced somnolence, while after switching, 3 children (1.9%) experienced mild adverse drug reactions, including dizziness, somnolence, irritability, and bad temper. CONCLUSIONS Switching from brand-name to generic levetiracetam is safe and effective and holds promise for clinical application, but more prospective randomized controlled trials are required in future.
Child ; Epilepsy/drug therapy* ; Humans ; Levetiracetam ; Prospective Studies ; Retrospective Studies ; Seizures

OBJECTIVETo investigate the clinical features in children with tuberous sclerosis complex (TSC)-associated cardiac rhabdomyomas (CRM).

METHODSThe clinical data of 15 children with TSC complicated by CRM were collected. The clinical features of the patients were analyzed, and TSC gene mutations were detected.

RESULTSEleven cases (73%) developed multiple CRM. The majority of the tumors were located in the left and right ventricles. Most tumors presented as a round-like hyperechogenic mass with a clear margin on echocardiography. Arrhythmias occurred in 3 patients and 2 patients experienced heart failure. Gene mutation tests were performed in 2 patients, and pathogenic mutations were detected in both patients, which were TSC1 mutation and TSC2 mutation, respectively. Three patients were followed up for 6 to 38 months, and their CRM shrank or regressed spontaneously.

CONCLUSIONSTSC-associated CRM is generally multiple. Heart failure and arrhythmias may occur in some patients. Echocardiography is important for diagnosis of CRM. TSC-associated CRM has an inclination to spontaneous regression. TSC can be diagnosed at a molecular genetic level by TSC gene mutation detection.

Child, Preschool ; Female ; Heart Neoplasms ; complications ; genetics ; Hemodynamics ; Humans ; Infant ; Infant, Newborn ; Male ; Mutation ; Rhabdomyoma ; complications ; genetics ; Tuberous Sclerosis ; etiology ; Tumor Suppressor Proteins ; genetics

Objective: To detect the CHRNA7 gene mutation and polymorphism in Southern Han Chinese patients with nocturnal frontal lobe epilepsy (NFLE). Methods: Blood samples were collected from 215 Southern Han Chinese patients with NFLE and 200 healthy Southern Han Chinese control subjects. Genomic DNA was extracted, and CHRNA7 whole genome exons were amplified by the polymerase chain reaction and subjected to Sanger sequencing. Results: No CHRNA7 gene mutation was detected in all of the NFLE patients. However, five single nucleotide polymorphisms (SNPs) in sporadic cases were found, located in exons 5, 6, and 7 of the CHRNA7 gene. Among them, c.690G>A and c.698A>G are known SNPs, while c.370G>A, c.654C>T, and c.497-498delTG were newly discovered SNPs. These SNPs were also found in some of the healthy controls. Conclusions: No CHRNA7 gene mutation was identified in Southern Han Chinese patients with NFLE. The CHRNA7 gene is probably not responsible for NFLE in this population.

OBJECTIVETo investigate mutations of CHRNA4 gene in Chinese patients with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).

METHODSTwo hundred and fifty-seven patients (including 215 sporadic and 42 familial cases) were analyzed. Mutational screening was performed by sequencing all of the 6 exons of the CHRNA4 gene including the donor and acceptor splice sites.

RESULTSThe results have excluded the involvement of any known mutations of the CHRNA4 gene. A novel synonymous mutation c.570C>T(D190D) and 6 single nucleotide polymorphisms (SNPs) of the CHRNA4 gene were detected in 6 sporadic cases, including c.639T/C, c.678T/C, c.1209G/T, c.1227T/C, c.1659G/A, and c.1629C/T. The SNP D190D was hererozygous and absent in 200 healthy controls.

CONCLUSIONThis results suggested that mutations of the CHRNA4 gene may be rare in southern Chinese population with ADNFLE. The synonymous mutation D190D has not been reported previously. Its impact on the pathogenesis of ADNFLE warrant further study.

Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; Child ; Child, Preschool ; DNA Mutational Analysis ; methods ; Epilepsy, Frontal Lobe ; genetics ; Female ; Genes, Dominant ; Humans ; Infant ; Male ; Mutation ; Pedigree ; Polymorphism, Single Nucleotide ; Receptors, Nicotinic ; genetics ; Young Adult

Objective To investigate the virulence gene and mutation features in the Chinese patients with autosomal dominant noctumal frontal lobe epilepsy(ADNFLE) by using the direct sequencing(DS) PCR products with all the exons of CHRNA4 in 6 ADNFLE families,and to interpret the molecular pathogenesis in Chinese patients affected by ADNFLE.Methods Six ADNFLE families were collected,included 66 people and 24 patients with ADNFLE,and 200 healthy volunteers were selected as control group.The genomic DNA was extracted.The exons 1-6 in CHRNA4 were amplified by the PCR.The amplified products were sequenced and analyzed.All data were analyzed with SPSS 13.0 software.Results There were 4 base substitutions in exon 5,and they were c.909T ＞ G,c.1440G ＞ T,c.1458T ＞ C and c.942C ＞ T.All those base substitutions were synonymous.The first three were homozygosis substitutions,but the last one was heterozygosis substitutions.Conclusions The hot spot mutations of CHRNA4 which have been reported were not detected.Whether or not there is a correlation between ADNFLE and this substitution need to be identified by study with

Objective To investigate the relationship between the serum levels of neuron-specific enolase (NSE) and the severity of electroencephalogram(EEG) in children with epilepsy.Methods Two hundred and thirty epileptic children and 74 healthy children were enrolled in the study.Serum level of NSE was detected and video EEG was performed before and 1 year after treatment of the epileptic children respectively.Serum level of NSE in healthy control group was also detected.Results The serum level of NSE before treatment of the epileptic children was significantly higher than that of healthy control group(P ＜ 0.001).There was no significant difference in serum level of NSE between generalized seizures and focal seizures (P =0.13).The serum level of NSE 1 year after treatment was significantly decreased compared with that before treatment (P ＜ 0.001),while the degree of severity on EEG was improved significantly.The serum level of NSE of abnormal EEG group was higher than that of the normal range EEG group and bounded EEG group(all P ＜0.05),there was positive correlation between serum level of NSE and the severity of EEG (rs =0.605,P ＜ 0.001).Conclusions The serum levels of NSE are related to the severity of EEG changes.Serum NSE combined with EEG can betterly predict the degree of brain damage in epileptic children.

Objective To investigate the image changes of proton magnetic resonance spectroscopy (1H-MRS) in children with epilepsy and their clinical significance. Methods Sixty-four patients with epilepsy,admitted to our hospital from March 2008 to March 2011,and 10 healthy children as control group were chosen in our study; the patients were divided into MR normal group and MR abnormal group according to the results of MR imaging. All of them received 1H-MRS examination on the hippocampal area.The ratio of NAA/Cho+Cr was compared between each 2 groups. Results No significant differences on the ratio of NAA/Cho+Cr were noted between the fight and left sides in all the groups (P＞0.05).The ratio of NAA/Cho+Cr was significantly different:MR normal group and control group enjoyed obvious difference as compared with MR abnormal group (P＜0.05); however,MR normal group and MR abnormal group existed no statistically significant differences (P＞0.05). Conclusion 1H-MRS is more sensitivity than MRI in children with epilepsy,therefore,1H-MRS can find the lesions earlier than MR imaging.

OBJECTIVETo investigate the gene mutations of CHRNB2 and CHRNA2 in Chinese population with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).

METHODSOne hundred and six Han nationality patients (74 sporadic and 32 familial) were recruited and studied. Mutational screening was performed by sequencing all the 6 coding exons of the CHRNB2 gene and exons 6 and 7 of the CHRNA2 gene including the donor and acceptor splice sites.

RESULTSThe results excluded the involvement of all known published mutations of the CHRNB2 and CHRNA2 genes. However, a novel synonymous mutation c.483C>T (H161H) and a single nucleotide polymorphism (c.1407C>G) of CHRNB2 gene were detected in two ADNFLE sporadic patients respectively. The nucleotide variation H161H was heterozygous and absent in 200 healthy control samples. The mutation was also found in the proband's unaffected mother.

CONCLUSIONOur study suggests that the mutations of CHRNB2 and CHRNA2 genes may be rare in Chinese ADNFLE population. The novel synonymous mutation of H161H has not been reported previously and its impact on the pathogenesis of ADNFLE needs to be further studied.

Asian Continental Ancestry Group ; genetics ; Child ; Child, Preschool ; DNA Mutational Analysis ; Epilepsy, Frontal Lobe ; genetics ; Female ; Genes, Dominant ; Humans ; Male ; Mutation ; Receptors, Nicotinic ; genetics

0.05).Of essay group 19 children whose PET were normal or slight abnormal,8 children's VEEG had epileptifrom abnormalities only appear in lucid interval,8 children's VEEG had epileptifrom abnormalities appear in nocturnal sleep period,3 children's VEEG had epileptifrom abnormalities appear in lucid interval and nocturnal sleep period.Of essay group,7 children whose PET were serious abnormal,6 children's VEEG had epileptifrom abnormalities appear in lucid interval and nocturnal sleep period.The PET outcome was relate with the time of VEEG epileptic discharge(r=0.461 P