Application of Massive Parallel DNA Sequencing to Diagnose Drug-Resistant Epilepsy in Children

Application of Massive Parallel DNA Sequencing to Diagnose Drug-Resistant Epilepsy in Children

The results of a search for pathogenic factors that determine the development of drug-resistant epilepsy in children are presented. The search was performed by massive parallel DNA sequencing. In five patients (42% of the studied group), pathogenic and likely pathogenic variants of the nucleotide se...

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Veröffentlicht in:Molecular genetics, microbiology and virology microbiology and virology, 2021-10, Vol.36 (4), p.189-191
Hauptverfasser: Ivanova, A. S., Sivitskaya, L. N., Kulikova, S. L., Liaudanski, A. D., Davydenko, O. G.
Format: Artikel
Sprache:eng
Schlagworte:
Autophagy
Biomedical and Life Sciences
Children
Deoxyribonucleic acid
DNA
DNA sequencing
Drug resistance
Epilepsy
Experimental Papers
Gene expression
Gene regulation
Life Sciences
Microbiology
Molecular Medicine
Nucleotide sequence
Synaptic transmission
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Zusammenfassung:The results of a search for pathogenic factors that determine the development of drug-resistant epilepsy in children are presented. The search was performed by massive parallel DNA sequencing. In five patients (42% of the studied group), pathogenic and likely pathogenic variants of the nucleotide sequence in genes associated with ion-channel functioning, synaptic transmission, gene-expression regulation, and autophagy were detected. The de novo origin of the mutations was determined in all cases.
ISSN:0891-4168
1934-841X
DOI:10.3103/S0891416821040091