ABSTRACT
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.
Subject(s)
Child , Humans , Epilepsy/drug therapy , Levetiracetam , Prospective Studies , Retrospective Studies , SeizuresABSTRACT
<p><b>OBJECTIVE</b>To investigate the clinical features in children with tuberous sclerosis complex (TSC)-associated cardiac rhabdomyomas (CRM).</p><p><b>METHODS</b>The 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.</p><p><b>RESULTS</b>Eleven 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.</p><p><b>CONCLUSIONS</b>TSC-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.</p>
Subject(s)
Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Heart Neoplasms , Genetics , Hemodynamics , Mutation , Rhabdomyoma , Genetics , Tuberous Sclerosis , Tumor Suppressor Proteins , GeneticsABSTRACT
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.
ABSTRACT
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.
ABSTRACT
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.
ABSTRACT
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
ABSTRACT
<p><b>OBJECTIVE</b>To investigate mutations of CHRNA4 gene in Chinese patients with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).</p><p><b>METHODS</b>Two 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.</p><p><b>RESULTS</b>The 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.</p><p><b>CONCLUSION</b>This 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.</p>
Subject(s)
Adolescent , Adult , Child , Child, Preschool , Female , Humans , Infant , Male , Young Adult , Asian People , Genetics , DNA Mutational Analysis , Methods , Epilepsy, Frontal Lobe , Genetics , Genes, Dominant , Mutation , Pedigree , Polymorphism, Single Nucleotide , Receptors, Nicotinic , GeneticsABSTRACT
<p><b>OBJECTIVE</b>To investigate the gene mutations of CHRNB2 and CHRNA2 in Chinese population with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).</p><p><b>METHODS</b>One 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.</p><p><b>RESULTS</b>The 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.</p><p><b>CONCLUSION</b>Our 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.</p>
Subject(s)
Child , Child, Preschool , Female , Humans , Male , Asian People , Genetics , DNA Mutational Analysis , Epilepsy, Frontal Lobe , Genetics , Genes, Dominant , Mutation , Receptors, Nicotinic , GeneticsABSTRACT
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
ABSTRACT
Objective To assess the long efficacy and safety of Lamotrigine(LTG) monotherapy and add-on therapy different types of epileptic seizures in children.Methods According to the classification of the 1981 and 1989 International Union of Antiepileptic for epileptic seizure,a total of 124 cases with epilepsy were included in the study and divided into non-refractory group with 93 cases and refractory group with 31 cases.LTG treatment only or add-on were used.Original drug dosage was not changed and LTG was added slowly and carefully untill the terrible side effect appeared.The average monthly seizure frequency with baseline in the last 3 months was compared and the side effect was observed.Results Total efficiency was 72.6%,control rate was 51.6%.Total efficiency and control rate of the non-refractory group was 81.0% and 61.3%,which was significantly higher than those of refractory group(48.4%,22.6%).Total efficiency and control rate of the combination group with LTG and valproate sodium(VPA) was 78.4% and 54.5%,which was significantly higher than those of the group of LTG only(61.0%,44.0%).Clinical results was different significantly between the course of the observation period within and over 5 years(P
ABSTRACT
0.05).The period when epileptiform abnormalities appear was obviously different(P
ABSTRACT
Objective To evaluate the long-term clinical efficacy and security of levetiracetam (Lev) as add-on therapy in patients with different types of epilepsies from an observational study.Methods Fifty-one patients were evaluated (14 female,37male,age range from 7months to 16 years,mean age 8.7 years) with different types of epilepsies ( 20 complex partial seizure,10 tonic-clonic seizure,1 tonic seizure,6 myoclonic epilepsy,2 Lennox-Gastaut syndrome,4 infantile spasms and 2 unspecified epileptic syndromes).The basis for comparison was defined as the seizure frequency in the 3 months prior to the commencement of treatment.Patients received Lev as add-on therapy.The initial dosage was 20 mg/(kg?d),and it was increased 10 mg/(kg?d) every 2 weeks.The maintenance dosage was 30-40 mg/(kg?d).Seizure frequency changes and adverse events were observed.Follow-up was conducted for a period of 6.8 months after treatment.SPSS 14.0 software was used to compare the difference between the seizure frequency before the Lev treatment and that after the Lev treatment.Results Thirteen (25.5%) out of the 51 patients reduced seizure frequency,16 (31.4%) patients had no reoccurrence;While another 9 (17.6%) patients seizure frequencied were reduced,8 patients' remained the same,and 5 patients' condition was got wor-sened.Six cases ceased treatment because of the worsening of the disease and the intolerance of Lev.The difference and after seizure frequency before in Lev treatment is statistically significant(P