Open Access
CC BY-NC-ND 4.0 · International Journal of Epilepsy 2023; 09(01/02): A1-A40
DOI: 10.1055/s-0044-1791380
Paper Abstracts

AP-18 Functional Consequences of Ion Channel Variants in Dee of Childhood

Authors

  • Prashanth Poulose

    1   Research Fellow, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India

  • Ramshekhar Menon

    2   Professor, Consultant Neurologist and Epileptologist, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India

  • Manna Jose

    1   Research Fellow, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India
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    Background: Paucity of data from India on functional alterations (funotypes) of ion channels in DEE and relation between funotype–phenotype correlations in defining the pathogenic potential of gene phenotypic expressions and their relationship to the molecular mechanisms of the genes.

    Hypothesis and Aims: There is association between the functional changes in ion channel genes and their corresponding phenotypes A distinct funotype or funotype–phenotype correlation helps in defining the pathogenic potential of a gene. Studying these functional changes in mutants would help in better understanding of the mechanisms of epilepsy and providing targeted treatment.

    Methodology: An observational hospital-based study was undertaken on subjects with DEE <18 years, whose families consented and underwent genetic testing during a study period of 2016 to 2022 by next-generation sequencing (NGS) or multiplex ligand protein amplification. Yield was considered based on demonstration of pathogenic/likely pathogenic variants only and variants of unknown significance (VUS) were documented. We plan to include potential epilepsy-associated ion channel genes and find the function of these variants using in silico tools.

    Expected Outcomes and Conclusion: Funotype should be an essential consideration in evaluating the pathogenicity of especially de novo mutations. Epilepsy-associated ion channel genes provide insights into the underlying mechanisms of epileptogenesis, help to identify novel treatment, provide precision treatment, and guide prognosis.


     

    Die Autoren geben an, dass kein Interessenkonflikt besteht.

    Publikationsverlauf

    Artikel online veröffentlicht:
    12. September 2024

    © 2023. Indian Epilepsy Society. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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