Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel KCTD7 Pathogenic Variants and a Literature Review
| العنوان: | Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel KCTD7 Pathogenic Variants and a Literature Review |
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| المؤلفون: | Debopam Samanta, Bahareh Rabbani, Nejat Mahdieh, Seyyed Mohammad Mahdi Hosseiny, Masoud Garshasbi, Reza Shervin Badv, Sima Binaafar, Ali Reza Tavasoli |
| المصدر: | Developmental Neuroscience. 43:348-357 |
| بيانات النشر: | S. Karger AG, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Sanger sequencing, Genetics, KCTD7, Encephalopathy, Biology, medicine.disease, symbols.namesake, Epilepsy, Genotype-phenotype distinction, Developmental Neuroscience, Neurology, Genetic variation, symbols, medicine, Gene, Non syndromic |
| الوصف: | Early-onset epileptic encephalopathies (EOEE) affect cognitive, sensory, and motor development. Genetic variations are among the identifiable primary causes of these syndromes. However, some patients have been reported to be affected by EOEE without any other clinical symptoms and signs. We study the genotype and phenotype of patients with nonsyndromic early-onset epileptic encephalopathy (NSEOEE) and report 2 novel patients from Iran. A comprehensive search was conducted in PubMed, John Willy, Springer, Elsevier, and Google Scholar databases to collect related information of all the previously reported cases with KCTD7 mutations. Fifty-four patients (from 40 families) were investigated. Using trio-whole-exome sequencing (trio-WES) and Sanger sequencing, the possible genetic causes of the disorder were checked. The probable impacts of the identified variants on the KCTD7 protein structure and function were predicted. This study provided a detailed overview of all published KCTD7 mutations and 2 de novo ones. We identified 2 novel homozygous variants of uncertain significance, c.458 G > A p. Arg153His and c.529C > T (p.Arg177Cys), in KCTD7 (NM_153033.4) (Chr7(GRCh37)). There is a significant wide distribution of the KCTD7 gene causing NSEOEE among different populations. In conclusion, KCTD7 mutations demonstrate a diverse geographical distribution alongside a wide range of ethnicities. This highlights the importance of careful consideration in the WES data analysis. Mutations of this gene may be a common cause of NSEOEE. Also, this study imprints targeted therapeutic opportunities for potassium channelepsies such as KCTD7-related NSEOEE. |
| تدمد: | 1421-9859 0378-5866 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::987ccc0eaa41e1448ec29525f4f3fbc8 https://doi.org/10.1159/000519318 |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi...........987ccc0eaa41e1448ec29525f4f3fbc8 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14219859 03785866 |
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