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6th Edition of International Conference on Neurology and Brain Disorders

October 24 -26, 2022

October 24 -26, 2022 | Orlando, Florida, USA
INBC 2022

Yusupova Dilnoza

Speaker at Neurology and Brain Disorders 2022 - Yusupova Dilnoza
Tashkent Medical Academy, Uzbekistan
Title : Molecular and genetic aspects ?atamenial epilepsy

Abstract:

Background and aims To clarify the role of the al-subunit of the neuronal sodium channel (SCN1A) gene in the development of catamenial epilepsy in the patients we examined, the study analyzed the associations of polymorphic DNA loci D2S2330 and D2S124 linked to the SCN1A gene and searched for mutations and polymorphisms in the SCN1A gene.

Material and methods of research. We conducted molecular genetic studies of 45 women with catamenial epilepsy and 40 women with symptomatic epilepsy. It is important to note that all the surveyed were of Uzbek nationality. We have studied the polymorphism of the microsatellite locus D2S2330, located0.16 cM distal from the SCN1A gene, between the SCN1A and SCN2A genes. During the study of the D2S2330 locus, the monomeric unit of which is the CA-repeat, 16 (*1-*16 ) alleles (from 145 P.O. to 175 P.O.).

The results of the study. Our research has shown that the frequency of alleles D2S2330*9, D2S2330*12 and D2S2330*11 were greater in patients with catamenial epilepsy than in women with symptomatic epilepsy. Our analysis of the frequency distribution of alleles and genotypes of the DNA locus D2S2330 linked to the gene of the al-subunit of the neuronal sodium channel (SCN1A) revealed an association of polymorphic variants of this locus with an increased risk of developing catamenial epilepsy. This indicates their possible coupling with a mutation in the SCN1A gene. In this connection, the search for changes in the nucleotide sequence is relevant of this gene in women with epilepsy.

Conclusions. The alleles identified by us indicate the presence of signs of congenital channelopathy in women with catamenial epilepsy, which in most cases requires a revision of treatment tactics, and in particular the replacement of AEP with a modern one with better pharmacokinetic indicators.

Research benefits.

1.Today, one of the most important problems of reproductive health is the problem of the negative impact of neurological pathology on the reproductive system of women. Epilepsy is one of the most significant neurological diseases in medical, psychological and social terms and is characterized by a high prevalence.

2. As a result of the study, the influence of genetic factors on the formation, development and severity of catamenial epilepsy in women of reproductive age was proved.

3. The presence of these alleles indicates the presence of signs of congenital channelopathy in women with catamenial epilepsy, which in most cases requires a revision of treatment tactics, and in particular, the replacement of AED with a modern one with better pharmacokinetic parameters.

Biography:

I am Dilnoza Yusupova graduated from the Master's program in Neurology at the Tashkent Medical Academy. This year I want to enter the basic doctorate and continue to study and research in the field of female epilepsy. Under the guidance of Professor Rakhimbayeva Gulnara Sattarovna, they won a grant for research work on catamenial epilepsy. I have published more than 50 scientific papers.

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