THE EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY ASSOCIATED WITH MUTATION IN GABRB3 GENE
Journal Title: World Journal of Pharmaceutical Research - Year 2018, Vol 7, Issue 4
Abstract
GABRB3 gene, located on chromosome 15q11.2-q12, encodes β3- subunit of the GABAA receptor. The reduced GABRB3 expression underlies in the pathogenesis of absence seizures, abnormal sensory processing, and other neurodevelopmental disorders such as Angelman syndrome, autism spectrum disorders, and intellectual disability. We present clinical case of early epileptic encephalopathy in patient with de novo mutation in the GABRB3 gene, identified by whole-exome sequencing. Similar to previous reported clinical cases, our patient had multiple seizure types resistant to therapy, with a tendency to group into clusters and development of refractory epileptic status, significant delay in psychomotor and pre-speech development. Electroencephalography demonstrated ictal generalized and multifocal epileptiform activity. The novel de novo nucleotide sequence variant in the 7 exon of the GABRB3 gene (c.757C> T, p.Pro253Ser) was detected by whole-exome sequencing and confirmed Sanger sequencing. The our clinical case shows the possibility of the ketogenic diet use in the complex therapy of refractory epileptic status in a patient with a mutation in the GABRB3 gene, that correlates with the world experience in the treatment of epileptic status. The own clinical case shows that mutations in the GABRB3 gene may be the cause of early epileptic encephalopathy and demonstrate the importance of DNA diagnostics using the method of whole-exome sequencing in order to find molecular defect.
Authors and Affiliations
T. V. Kozhanova
Keywords
Related Articles
- EP ID EP620524
- DOI -
- Views 116
- Downloads 0
TRACE ELEMENTS CONCENTRATIONS IN TURKEY SPECIES OF WILD GROWING EDIBLE MUSHROOMS: A REVIEW
Turkey has great mushroom-producing potential due to environmental conditions. It is a popular natural food in Turkey. This article review presents scientific information on trace element (Cu, Cd, Zn, Pb, Mn, Fe, Cr, Ni)...
DEPLETION OF OXYTETRACYCLINE FROM CHICKEN TISSUES
Oxytetracycline residue was evaluated in broiler tissues after oral administration of the drug in drinking water. Thirty broiler chickens-4 weeks old age were administered Oxytetracycline in drinking water for five conse...
RADICAL SCAVENGING ACTIVITY OF TELMISARTAN IN NITRITE-INDUCED HEMOGLOBIN OXIDATION: IN VIVO STUDY
A large number of therapeutic and environmental agents may cause methemoglobinemia like nitrite. Several free radical species are generated during the course of nitrite-induced methemoglobin formation. Telmisartan, a hig...
SUBSTITUTED BENZIMIDAZOLE A POTENTIAL DRUG CANDIDATE: AN OVERVIEW
Benzimidazole has diverse biological potential and the easy synthetic routes for synthesis have taken attention of the chemists, pharmacologists and researchers. The review of synthetic methods of substituted benzimidazo...
ATTITUDES AND OPINION OF HOSPITAL PHARMACISTS TOWARDS EXTEMPORANEOUS COMPOUNDING AND RELATED ISSUES IN KHARTOUM CITY: PART II
Objectives: To examine the frequency, nature and extent of extemporaneous compounding undertaken by Sudanese hospital pharmacists and determine their attitude on aspects related to extemporaneous compounding. Methods: 20...