Discovery of a Novel Shared Variant Among RTEL1 Gene and RTEL1-TNFRSF6B lncRNA at Chromosome 20q13.33 in Familial Progressive Myoclonus Epilepsy

Sima Chaudhari; Lavanya Prakash Acharya; Dushyanth Babu Jasti; Akshay Pramod Ware; Sankar Prasad Gorthi; Kapaettu Satyamoorthy

doi:10.1155/2024/7518528

International Journal of Genomics (Jan 2024)

Discovery of a Novel Shared Variant Among RTEL1 Gene and RTEL1-TNFRSF6B lncRNA at Chromosome 20q13.33 in Familial Progressive Myoclonus Epilepsy

Sima Chaudhari,
Lavanya Prakash Acharya,
Dushyanth Babu Jasti,
Akshay Pramod Ware,
Sankar Prasad Gorthi,
Kapaettu Satyamoorthy

Affiliations

Sima Chaudhari: Department of Cell and Molecular Biology
Lavanya Prakash Acharya: Department of Cell and Molecular Biology
Dushyanth Babu Jasti: Department of Neurology
Akshay Pramod Ware: Department of Bioinformatics
Sankar Prasad Gorthi: Department of Neurology
Kapaettu Satyamoorthy: Department of Cell and Molecular Biology

DOI: https://doi.org/10.1155/2024/7518528
Journal volume & issue: Vol. 2024

Abstract

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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.

Published in International Journal of Genomics

ISSN: 2314-436X (Print); 2314-4378 (Online)
Publisher: Wiley
Country of publisher: United Kingdom
LCC subjects: Science: Biology (General): Genetics
Website: https://onlinelibrary.wiley.com/journal/4140

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