The study of sodium and potassium channel gene single-nucleotide variation significance in non-mechanical forms of epilepsy
| Autor: | Gulminyam Baratzhanova, Leyla Djansugurova, Zhanerke Tileules, Ozada Khamdiyeva, Anastassiya V. Perfilyeva |
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| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
lcsh:QH426-470 Autosomal dominant nocturnal frontal lobe epilepsy Gene mutation Bioinformatics medicine.disease_cause 03 medical and health sciences Exon Epilepsy 0302 clinical medicine Dravet syndrome medicine Genetics (clinical) lcsh:R5-920 Mutation business.industry Sodium channel medicine.disease Potassium channel lcsh:Genetics 030104 developmental biology Ion channel gene De novo lcsh:Medicine (General) business 030217 neurology & neurosurgery |
| Zdroj: | Egyptian Journal of Medical Human Genetics, Vol 22, Iss 1, Pp 1-8 (2021) |
| ISSN: | 2090-2441 |
| Popis: | Background Epilepsy is one of the most common and heterogeneous neurological diseases. The main clinical signs of the disease are repeated symptomatic or idiopathic epileptic seizures of both convulsive and non-convulsive nature that develop against a background of lost or preserved consciousness. The genetic component plays a large role in the etiology of idiopathic forms of epilepsy. The study of the molecular genetic basis of neurological disorders has led to a rapidly growing number of gene mutations known to be involved in hereditary ion channel dysfunction. The aim of this research was to evaluate the involvement of single-nucleotide variants that modify the function of genes (SCN1A, KCNT1, KCNTС1, and KCNQ2) encoding sodium and potassium ion channel polypeptides in the development of epilepsy. Results De novo mutations in the sodium channel gene SCN1A c.5347G>A (p. Ala1783Thr) were detected in two patients with Dravet syndrome, with a deletion in exon 26 found in one. Three de novo mutations in the potassium channel gene KCNT1 c.2800G>A (p. Ala934Thr), were observed in two patients with temporal lobe epilepsy (TLE) and one patient with residual encephalopathy. Moreover, a control cohort matched to the case cohort did not reveal any SNVs among conditionally healthy individuals, supporting the pathogenic significance of the studied SNVs. Conclusion Our results are supported by literature data showing that the sodium ion channel gene SCN1A c.5347G>A mutation may be involved in the pathogenesis of Dravet syndrome. We also note that the c.2800G>A mutation in the potassium channel gene KCNT1 can cause not only autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) but also other forms of epilepsy. To treat pathogenetic mutations that accelerate the function of sodium and potassium ion channels, we recommend ion channel blockade drug therapy. |
| Databáze: | OpenAIRE |
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