Genetic Analysis of Children with Dravet Syndrome in a Resourcelimited Setting
Objective: To identify the common causal gene mutations in Thai children with the Dravet (DS) phenotype, using single gene analysis. Material and Methods: The study was carried out on 20 DS patients at Siriraj Hospital, Bangkok, Thailand. Sanger sequencing of the Voltage-Gated Sodium Channel Alpha S...
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th-mahidol.859292023-06-19T00:51:36Z Genetic Analysis of Children with Dravet Syndrome in a Resourcelimited Setting Viravan S. Mahidol University Medicine Objective: To identify the common causal gene mutations in Thai children with the Dravet (DS) phenotype, using single gene analysis. Material and Methods: The study was carried out on 20 DS patients at Siriraj Hospital, Bangkok, Thailand. Sanger sequencing of the Voltage-Gated Sodium Channel Alpha Subunit 1 (SCN1A) gene was conducted in all patients. In SCN1A-negative patients, multiplex ligation-dependent probe amplification of the SCN1A gene was performed in all cases; however, direct sequencing of the Protocadherin-19 (PCDH19) gene was analyzed in girls only. Results: Fourteen (70.0%) DS patients were found to carry pathogenic SCN1A mutations, with 6 novel mutations. In SCNIA-negative patients; 1 of the 4 girl patients (25.0%) had a novel PCDH19 mutation, while none of the 6 patients had a large deletion or duplication in the SCN1A gene. Conclusion: The SCN1A gene is the most common causative mutation in Thai children with DS phenotype. This study emphasizes the benefit of Sanger sequencing of the SCN1A gene in resource-limited countries to aid in making appropriate therapeutic decisions 2023-06-18T17:51:36Z 2023-06-18T17:51:36Z 2022-05-01 Article Journal of Health Science and Medical Research Vol.40 No.3 (2022) , 301-308 10.31584/jhsmr.2021838 26300559 25869981 2-s2.0-85127671101 https://repository.li.mahidol.ac.th/handle/123456789/85929 SCOPUS |
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Medicine Viravan S. Genetic Analysis of Children with Dravet Syndrome in a Resourcelimited Setting |
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Objective: To identify the common causal gene mutations in Thai children with the Dravet (DS) phenotype, using single gene analysis. Material and Methods: The study was carried out on 20 DS patients at Siriraj Hospital, Bangkok, Thailand. Sanger sequencing of the Voltage-Gated Sodium Channel Alpha Subunit 1 (SCN1A) gene was conducted in all patients. In SCN1A-negative patients, multiplex ligation-dependent probe amplification of the SCN1A gene was performed in all cases; however, direct sequencing of the Protocadherin-19 (PCDH19) gene was analyzed in girls only. Results: Fourteen (70.0%) DS patients were found to carry pathogenic SCN1A mutations, with 6 novel mutations. In SCNIA-negative patients; 1 of the 4 girl patients (25.0%) had a novel PCDH19 mutation, while none of the 6 patients had a large deletion or duplication in the SCN1A gene. Conclusion: The SCN1A gene is the most common causative mutation in Thai children with DS phenotype. This study emphasizes the benefit of Sanger sequencing of the SCN1A gene in resource-limited countries to aid in making appropriate therapeutic decisions |
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Mahidol University |
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Mahidol University Viravan S. |
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Viravan S. |
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Viravan S. |
title |
Genetic Analysis of Children with Dravet Syndrome in a Resourcelimited Setting |
title_short |
Genetic Analysis of Children with Dravet Syndrome in a Resourcelimited Setting |
title_full |
Genetic Analysis of Children with Dravet Syndrome in a Resourcelimited Setting |
title_fullStr |
Genetic Analysis of Children with Dravet Syndrome in a Resourcelimited Setting |
title_full_unstemmed |
Genetic Analysis of Children with Dravet Syndrome in a Resourcelimited Setting |
title_sort |
genetic analysis of children with dravet syndrome in a resourcelimited setting |
publishDate |
2023 |
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https://repository.li.mahidol.ac.th/handle/123456789/85929 |
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1781416813143261184 |