Research Centre for Medical Genetics
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A joint article on deep-phenotyping of PIGT-associated disease has been published

Experts from the FSBI RCMG Research and Counseling Department together with their foreign colleagues published an article on the deep-phenotyping of patients with PIGT-associated disease in Frontiers in Genetics journal. Only 37 cases of the disease have been described worldwide, so it is impossible to study the disease without cooperation of doctors from different countries and standardization of their clinical description. The results presented in this article will improve future medical genetic counseling in patients with newly diagnosed PIGT-associated disease, as well as help to choose epilepsy therapy for a particular genotype.

Bayat A, Pendziwiat M, Obersztyn E, Goldenberg P, Zacher P, Döring JH, Syrbe S, Begtrup A, Borovikov A, et al (2021) Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures. Front. Genet. 12:663643. doi: 10.3389/fgene.2021.663643