[The coincidence of benign non-familial infantile seizures type 2 with osteogenesis imperfecta type 1]. / Sochetanie dobrokachestvennykh nesemeinykh infantil'nykh pristupov 2-go tipa s nesovershennym osteogenezom 1-go tipa.

A clinical case of a patient with neonatal epilepsy at the age of 5 months, with impaired bone formation, early osteoporosis and frequent limb fractures is described. Panel sequencing confirmed by Sanger sequencing revealed two independent hereditary diseases - osteogenesis imperfect type 1, associated with a mutation in the COL1A1 gene (c.2010delT) and benign non-familial infantile seizures associated with a mutation in the PRRT2 gene (c.649dupC). A unique clinical case of a combination of these diseases is presented.