الملخص
Objective:To explore the clinical phenotypic features and genetic variation characteristics of children with epilepsy-aphasia spectrum due to GRIN2A gene variants confirmed by second-generation sequencing. Methods:The clinical data of 5 children with epilepsy-aphasia spectrum with epileptic onset diagnosed in the Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University, from February 2019 to November 2022 were retrospectively analyzed. Whole-exome genome sequencing of the probands using a second-generation sequencing method confirmed that all 5 cases were children with the GRIN2A gene variant. The characteristics of the GRIN2A gene variants were analyzed. Results:Among the 5 children diagnosed with epileptic aphasia spectrum due to GRIN2A gene variants, the male-to-female ratio was 4∶1, and the age range of onset was 1.5-4.4 years. The clinical phenotype included seizures in all cases, language and intellectual developmental deficits in 4 cases, and attention deficit hyperactivity disorder in 3 cases. The seizures were manifested as focal seizures or secondary generalized seizures, and were effectively controlled with antiepileptic drugs. Among the 5 children, gene variant of case 1 was originated from a paternal heterozygous variant, and cases 2-5 had de novo variants, which were c.2107C>T (p.Gln703 *) nonsense variant, c.2284G>A (p.Gly762Arg) missense variant, c.2197del (p.Ala733Glnfs *3) shifted coding variant, c.2511G>A (p.Trp837 *) nonsense variant, and c.1651+1G>C shear site variant, respectively. None of the 5 loci were reported in the literature. Conclusions:Epilepsy-aphasia spectrum is an epilepsy syndrome with a complex onset, and may have different phenotypes at different genetic variant loci, with focal seizures or secondary generalized seizures, which can be effectively controlled with anti-seizure medication. The GRIN2A gene variant is the genetic etiology of the epileptic aphasia spectrum.
الملخص
Objective To investigate the association between multi-drug resistant 1 (MDR1) gene C3435T and T129C polymorphism with refractory epilepsy in children. Methods A total of 260 children including 60 refractory epilepsy, 100 drug-responsive epilepsy, and 100 healthy children were enrolled. The genotypes for MDR1 polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism analysis.The distribution of genotypes and allele frequencies of the three groups were compared. Results The distribution of TT/TC/CC genotypes and T/C allele frequencies of C3435T showed no signiifcant difference between drug-resistant patients and drug-responsive patients or normal control group (P>0.05). Drug-resistant patients were more likely to have the TC genotype and the C allele at T129C when compared with the drug-responsive patients and the normal control group (P<0.05). Conclusions T129C polymorphism of the MDR1 gene was associated with refractory epilepsy in children.
الملخص
Objective To explore the serum levels of progestrone (Prog) and dehydroepiandrosterone sulfate(DHEAS),and the effect of sodium valproate(VPA) and lamotrigine(LTG) on the levels of Prog and DHEAS in infantile spasms.Methods A total of 36 cases of infantile spasms (spasms group) before treatment and 40 cases health infants(control group) were detected the serum Prog and DHEAS levels by electrochemiluminescence immunoassay,and were compared with 21 cases receiving monotherapy with VPA(VPA group),and 13 cases receiving therapy plus lamotrigine(LTG group) before and 4 months after treatment to observe the changes of sex hormone.Results There were no significant differences in Prog and log(DHEAS) (logarithmic transformation) levels between spasms group and control group (P ＞0.05).The serum Prog level of baby girls and baby boys were lower after treatment than those before treatment in VPA group respectively (t =2.603,3.146 ; P =0.003,0.008,respectively).The log (DHEAS) level of baby girls and baby boys were higher in LTG group after treatment than those before treatment respectively(t =3.185,2.663 ;P =0.007,0.041).Conclusion Infantile spasms would not influence the hormone metabolism,while VPA and LTG can influence the sex hormone.The hormone level should be monitored in the treatment.