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A Scientific Article Which Was Published in the Journal Clinical Genetics by RCMG Stuff Entered the Top Downloadable Publications of 2022

A joint work of the team of authors of the Research Centre for Medical Genetics, devoted to the study of the relationship of variants of the gene PHACTR1 with multi-focal epilepsy with infantile spasms and hypsarrhythmia, was published in 2021.

Previously, the PHACTR1 gene was not associated with human disease. The detailed analysis of several Russian and foreign teams proved not only the pathogenicity of the first discovered missen-variant, but also led to the study of pathogenesis of the disease.

Phactr1 has been shown to interact with the potassium channel Slack. At the same time, it was known that pathogenic variants in Slack were associated with malignant migratory partial attacks in infancy, characterized by convulsions and mental retardation. The clinical profile of these patients was similar to that of the observed patient. Therefore, it was decided that PHACTR1 and Slack are in the same molecular pathway. The work was published in the journal Clinical Genetics. To date, according to the magazine’s statistics, this article is included in the top downloadable publications of 2022.
 

Marakhonov AV, Přechová M, Konovalov FA, Filatova AY, Zamkova MA, Kanivets IV, Solonichenko VG, Semenova NA, Zinchenko RA, Treisman R, Skoblov MY. Mutation in PHACTR1 Associated With Multifocal Epilepsy With Infantile Spasms and Hypsarrhythmia.
Clin Genet. 2021 Jan19. doi: 10.1111/cge.13926.

https://onlinelibrary.wiley.com/doi/10.1111/cge.13926