Zh Nevrol Psikhiatr Im S S Korsakova
May 2022
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 gene (c.2010delT) and benign non-familial infantile seizures associated with a mutation in the gene (c.
View Article and Find Full Text PDF