Clinical and genetic characteristics of patients with chromosomal rearrangements accompanied by seizures
https://doi.org/10.25557/2073-7998.2018.10.20-25
Abstract
Molecular genetic causes of hereditary epilepsy are diverse and include both monogenic and chromosomal pathologies. Monogenic causes of hereditary epilepsies are better studied than seizures syndromes with chromosome rearrangements. In the study of the group of patients with seizures caused by chromosome rearrangements, it was shown that the most frequent changes are those affecting the long arm of the second chromosome and the short arms of chromosome 1 and 4. The severity of the disease depends not so much on the size of the rearrangements as on the list of the genes, included in the affected area. In addition, when comparing groups of patients with chromosomal ore monogenic causes of hereditary epilepsy, it has been established that in the majority of cases, the chromosomal pathology debuts with a delay in psycho-motor development preceding the onset of seizures, while in monogenic diseases, seizures tend to occur earlier followed by the delay of development. These clinical-genetic correlations play a significant role in the order of the molecular diagnostic procedure aimed at optimizing the genetic diagnosis of hereditary epilepsies.
About the Authors
I. A. Akimova
Research Centre for Medical Genetics, Moscow
Russian Federation
Russian Federation
A. O. Borovikov
Research Centre for Medical Genetics, Moscow
Russian Federation
Russian Federation
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Review
For citations:
Akimova I.A., Borovikov A.O. Clinical and genetic characteristics of patients with chromosomal rearrangements accompanied by seizures. Medical Genetics. 2018;17(10):20-25. (In Russ.) https://doi.org/10.25557/2073-7998.2018.10.20-25
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