Discovery of a Novel Shared Variant Among RTEL1 Gene and RTEL1-TNFRSF6B lncRNA at Chromosome 20q13.33 in Familial Progressive Myoclonus Epilepsy
Conclusions: Our study is the first to report variants in KCNH8, RTEL1, and RTEL1-TNFRSF6B among PME cases. These genes when characterized fully may shed light on pathogenicity and have the potential to be used in the diagnosis of PME.
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2024-01-01
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| Series: | International Journal of Genomics |
| Online Access: | http://dx.doi.org/10.1155/2024/7518528 |
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| _version_ | 1832544751790850048 |
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| author | Sima Chaudhari Lavanya Prakash Acharya Dushyanth Babu Jasti Akshay Pramod Ware Sankar Prasad Gorthi Kapaettu Satyamoorthy |
| author_facet | Sima Chaudhari Lavanya Prakash Acharya Dushyanth Babu Jasti Akshay Pramod Ware Sankar Prasad Gorthi Kapaettu Satyamoorthy |
| author_sort | Sima Chaudhari |
| collection | DOAJ |
| description | Conclusions: Our study is the first to report variants in KCNH8, RTEL1, and RTEL1-TNFRSF6B among PME cases. These genes when characterized fully may shed light on pathogenicity and have the potential to be used in the diagnosis of PME. |
| format | Article |
| id | doaj-art-6001456eeda24254ab946cae7cf6d995 |
| institution | Kabale University |
| issn | 2314-4378 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Genomics |
| spelling | doaj-art-6001456eeda24254ab946cae7cf6d9952025-02-03T09:58:38ZengWileyInternational Journal of Genomics2314-43782024-01-01202410.1155/2024/7518528Discovery of a Novel Shared Variant Among RTEL1 Gene and RTEL1-TNFRSF6B lncRNA at Chromosome 20q13.33 in Familial Progressive Myoclonus EpilepsySima Chaudhari0Lavanya Prakash Acharya1Dushyanth Babu Jasti2Akshay Pramod Ware3Sankar Prasad Gorthi4Kapaettu Satyamoorthy5Department of Cell and Molecular BiologyDepartment of Cell and Molecular BiologyDepartment of NeurologyDepartment of BioinformaticsDepartment of NeurologyDepartment of Cell and Molecular BiologyConclusions: Our study is the first to report variants in KCNH8, RTEL1, and RTEL1-TNFRSF6B among PME cases. These genes when characterized fully may shed light on pathogenicity and have the potential to be used in the diagnosis of PME.http://dx.doi.org/10.1155/2024/7518528 |
| spellingShingle | Sima Chaudhari Lavanya Prakash Acharya Dushyanth Babu Jasti Akshay Pramod Ware Sankar Prasad Gorthi Kapaettu Satyamoorthy Discovery of a Novel Shared Variant Among RTEL1 Gene and RTEL1-TNFRSF6B lncRNA at Chromosome 20q13.33 in Familial Progressive Myoclonus Epilepsy International Journal of Genomics |
| title | Discovery of a Novel Shared Variant Among RTEL1 Gene and RTEL1-TNFRSF6B lncRNA at Chromosome 20q13.33 in Familial Progressive Myoclonus Epilepsy |
| title_full | Discovery of a Novel Shared Variant Among RTEL1 Gene and RTEL1-TNFRSF6B lncRNA at Chromosome 20q13.33 in Familial Progressive Myoclonus Epilepsy |
| title_fullStr | Discovery of a Novel Shared Variant Among RTEL1 Gene and RTEL1-TNFRSF6B lncRNA at Chromosome 20q13.33 in Familial Progressive Myoclonus Epilepsy |
| title_full_unstemmed | Discovery of a Novel Shared Variant Among RTEL1 Gene and RTEL1-TNFRSF6B lncRNA at Chromosome 20q13.33 in Familial Progressive Myoclonus Epilepsy |
| title_short | Discovery of a Novel Shared Variant Among RTEL1 Gene and RTEL1-TNFRSF6B lncRNA at Chromosome 20q13.33 in Familial Progressive Myoclonus Epilepsy |
| title_sort | discovery of a novel shared variant among rtel1 gene and rtel1 tnfrsf6b lncrna at chromosome 20q13 33 in familial progressive myoclonus epilepsy |
| url | http://dx.doi.org/10.1155/2024/7518528 |
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