Association between GABRG2 rs211037 polymorphism and idiopathic generalized epilepsies: a meta-analysis

Background We performed this meta-analysis to investigate the association between GABRG2 rs211037polymorphism and the risk for idiopathic generalized epilepsies (IGEs). Methods Medline, Embase, Cochrane Library and Chinese National Knowledge Infrastructure (CNKI) databases were searched for eligible studies (until May 5, 2020) on the association between GABRG2 rs211037 polymorphism and IGE. The odds ratios were calculated using a fixed or random model in STATA 15.0 software. Subgroup analyses for ethnicity, age, source of controls, type of seizure syndrome and therapeutic responses were conducted. Results We found no significant associations between GABRG2 rs211037 polymorphism and the susceptibility to IGEs. In addition, no significant association was detected between GABRG2 rs211037 polymorphism and drug resistance in IGE patients. The results did not change after stratification by Asian population, healthy controls, children, juvenile myoclonic epilepsy, and childhood absence epilepsy. Conclusion The current studies indicated that the GABRG2 rs211037 polymorphism was not related to susceptibility or drug resistance of IGE. Further well-designed studies are needed to verify the results.

Application of telemedical technologies in neurology – a historical aspect

Introduction. In the middle of the twentieth century, biotelemetry technologies were actively used in neurology, in the form of remote transmission and interpretation of an electroencephalogram (tele-EEG) for solving scientific and practical problems. Previously, this aspect of the development of clinical neurology has not been studied sufficiently. Materials and methods. The period of 1940-1980 was chosen for study. The relevant papers were identified thought electronic database (eLibrary ru, Pubmed). There are 28 papers are included in review. Results. In a global prospect, tele-EEG concepts, methods and technologies have evolved in parallel. The main contribution of the USSR is the development of methodology and technological solutions for tele-EEG, also as its application for solving scientific problems of sports and occupational medicine. The most significant are the works of the Sverdlovsk biotelemetric group. The main contribution of the USA is the development of computational tele-EEG and applications for scientific solutions in clinical neurology and psychiatry. Also, in the United States, tele-EEG was first limitedly used to solve personnel problems. The main contribution of European countries is in the formation of in-hospital and outpatient tele-EEG systems, their application for solving scientific problems of clinical neurology. Conclusion. In the middle of the twentieth century, the intensive development of telemetric electroencephalography (tele-EEG) led to the formation of a new direction in clinical telemedicine – teleneurology. Distant fixation of the brain electrical activity carried out both for the purpose of neurophysiology study and for solving clinical problems. General methodological issues and neurophysiological results of the tele-EEG highlighted in papers published in 1974-1977 by scientists from the USSR, USA, Hungary, Germany, Canada, the Netherlands, France. From the clinical point of view, the main contribution of tele-EEG is the study of the pathophysiology and innovative diagnosis of seizure syndrome and epilepsy.

Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness

Human pathogenic variants of TBC1D24 are associated with clinically heterogeneous phenotypes, including recessive nonsyndromic deafness DFNB86, dominant nonsyndromic deafness DFNA65, seizure accompanied by deafness, a variety of isolated seizure phenotypes and DOORS syndrome, characterized by deafness, onychodystrophy, osteodystrophy, intellectual disability and seizures. Thirty-five pathogenic variants of human TBC1D24 associated with deafness have been reported. However, functions of TBC1D24 in the inner ear and the pathophysiology of TBC1D24-related deafness are unknown. In this study, a novel splice-site variant of TBC1D24 c.965 + 1G > A in compound heterozygosity with c.641G > A p.(Arg214His) was found to be segregating in a Pakistani family. Affected individuals exhibited, either a deafness-seizure syndrome or nonsyndromic deafness. In human temporal bones, TBC1D24 immunolocalized in hair cells and spiral ganglion neurons, whereas in mouse cochlea, Tbc1d24 expression was detected only in spiral ganglion neurons. We engineered mouse models of DFNB86 p.(Asp70Tyr) and DFNA65 p.(Ser178Leu) nonsyndromic deafness and syndromic forms of deafness p.(His336Glnfs*12) that have the same pathogenic variants that were reported for human TBC1D24. Unexpectedly, no auditory dysfunction was detected in Tbc1d24 mutant mice, although homozygosity for some of the variants caused seizures or lethality. We provide some insightful supporting data to explain the phenotypic differences resulting from equivalent pathogenic variants of mouse Tbc1d24 and human TBC1D24.