A case of Dravet syndrome with a novel SCN1A gross deletion involving the promoter region
Here we present a case of Dravet syndrome in which a novel heterozygous deletion involving the promoter region of the SCN1A gene was identified using next-generation sequencing and multiple ligation-dependent probe amplification. This microdeletion is believed to reduce SCN1A transcription, leading to haploinsufficiency. This case highlights the importance of early genetic analysis, including that of promoter regions, before the diagnostic criteria are met for the induction of specific treatments.
Authors
- Erina Sakamoto
- Tokito Yamaguchi
- Hidetaka Eguchi (ORCID: https://orcid.org/0000-0002-0300-3587)
- Masami Arai (ORCID: https://orcid.org/0000-0001-7544-4536)
- Katsumi Imai (ORCID: https://orcid.org/0000-0001-8438-9284)
- Tomoya Ishida (ORCID: https://orcid.org/0000-0003-0174-7416)
- Yasushi Okazaki (ORCID: https://orcid.org/0000-0003-3241-5502)
- Shino Shimada (ORCID: https://orcid.org/0000-0001-5525-7362)
Institutions
- Juntendo University (JP)
- Shizuoka City Shimizu Hospital (JP)
- National Epilepsy Center (JP)
Publication Details
- Journal
- Human Genome Variation
- Published
- 2025-09-03
- DOI
- https://doi.org/10.1038/s41439-025-00320-4
- Citations
- 1
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 1.82
Funders
- Ministry of Health, Labour and Welfare
- Japan Epilepsy Research Foundation