Resistant epilepsy in hereditary chromosomal diseases
https://doi.org/10.46563/1560-9561-2025-28-1-85-90
EDN: iiqife
Abstract
The aim of the work: to present a clinical description of cases of epilepsy associated with a chromosomal mutation — deletion of chromosome 14.
Materials and methods. The authors’ own observations relate to neurological pathology, the leading manifestation of which was resistant epilepsy.
Results. The rarity of chromosome 14 deletion, the presence of complications, the high cost of invasive diagnosis, and the variability of the phenotype, including the absence of severe congenital malformations in children with microdeletions, determine delayed diagnosis at the prenatal stage with subsequent difficulties in treatment, medical, and psychosocial rehabilitation of such patients. In case of refractory epilepsy and delayed development of patients in infancy, characteristic of chromosomal microdeletions, genetic counselling and examination of patients should be performed to search for chromosomal pathology.
Conclusion. Increasing the awareness of doctors about these forms of pathology will contribute to timely diagnosis and treatment.
Contribution:
Novikova L.B., Faizullina N.M., Akopyan A.P., Ziultsle K.M. — study concept and design;
Faizullina N.M., Ziultsle K.M. — collection and treatment of materials, statistics;
Novikova L.B., Faizullina N.M., Akopyan A.P., Ziultsle K.M. — writing the text;
Novikova L.B., Akopyan A.P. — editing the text.
All co-authors — approval of the final version of the article, responsibility for the integrity of all parts of the article.
Acknowledgment. The study had no sponsorship.
Conflict of interest. The authors declare no conflict of interest.
Received: December 10, 2024
Accepted: January 30, 2025
Published: February 28, 2025
About the Authors
Liliya B. Novikova
Bashkir State Medical University
Russian Federation
Russian Federation
Nailya M. Faizullina
Bashkir State Medical University
Russian Federation
Russian Federation
Anait P. Akopyan
Bashkir State Medical University
Russian Federation
Russian Federation
Karina M. Ziultsle
Bashkir State Medical University
Russian Federation
Russian Federation
PhD, associate prof., Department of neurology and neurorehabilitation, Bashkir State Medical University
e-mail: sharapovakarina.2020@gmail.com
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Review
For citations:
Novikova L.B., Faizullina N.M., Akopyan A.P., Ziultsle K.M. Resistant epilepsy in hereditary chromosomal diseases. Russian Pediatric Journal. 2025;28(1):85-90. (In Russ.) https://doi.org/10.46563/1560-9561-2025-28-1-85-90. EDN: iiqife
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