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I D.V.

Far Eastern State Medical University

Aysina V.A.

National Medical Research Center of Children’s Health

The coincidence of benign non-familial infantile seizures type 2 with osteogenesis imperfecta type 1

Authors:

I D.V., Aysina V.A.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2022;122(5): 128‑131

DOI: 10.17116/jnevro2022122051128

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Table of contents

THE COINCIDENCE OF BENIGN NON-FAMILIAL INFANTILE SEIZURES TYPE 2 WITH OSTEOGENESIS IMPERFECTA TYPE 1
THE COINCIDENCE OF BENIGN NON-FAMILIAL INFANTILE SEIZURES TYPE 2 WITH OSTEOGENESIS IMPERFECTA TYPE 1

To cite this article:

I DV, Aysina VA. The coincidence of benign non-familial infantile seizures type 2 with osteogenesis imperfecta type 1. S.S. Korsakov Journal of Neurology and Psychiatry. 2022;122(5):128‑131. (In Russ.)
https://doi.org/10.17116/jnevro2022122051128

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова (S.S. Korsakov Journal of Neurology and Psychiatry)
 
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Abstract:

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.

Keywords:

osteogenesis imperfect
benign familial infantile seizures
benign non-familial infantile seizures
COL1A1 gene
PRRT2 gene

Authors:

I D.V.

Far Eastern State Medical University

Aysina V.A.

National Medical Research Center of Children’s Health

Received:

14.10.2021

Accepted:

25.01.2022

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