Evidence map›Paper›PMID 40903466›Full record

ArticleHuman genome variation2025

A case of Dravet syndrome with a novel SCN1A gross deletion involving the promoter region.

Eri Nakahara Sakamoto, Shino Shimada, Tokito Yamaguchi, Tomoya Ishida, Katsumi Imai, Hidetaka Eguchi, Yasushi Okazaki, Masami Arai

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genome variation, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Genetic medicines for epilepsy: unlocking new avenues for seizure control.Frontiers in bioengineering and biotechnology · 2026
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Eri Nakahara SakamotoDepartment of Pediatrics and Adolescent Medicine, Juntendo University Graduate School of Medicine, Bunkyo, Japan.
Shino ShimadaDepartment of Pediatrics and Adolescent Medicine, Juntendo University Graduate School of Medicine, Bunkyo, Japan. s-shimada@juntendo.ac.jp.ORCID http://orcid.org/0000-0001-5525-7362
Tokito YamaguchiDepartment of Pediatrics, NHO, National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan.
Tomoya IshidaDepartment of Pediatrics, NHO, National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan.
Katsumi ImaiDepartment of Pediatrics, NHO, National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan.
Hidetaka EguchiDiagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University Graduate School of Medicine, Bunkyo, Japan.ORCID http://orcid.org/0000-0002-0300-3587
Yasushi OkazakiDiagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University Graduate School of Medicine, Bunkyo, Japan.ORCID http://orcid.org/0000-0003-3241-5502
Masami AraiDepartment of Clinical Genetics, Juntendo University Graduate School of Medicine, Bunkyo, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Identifiers

PMID40903466
PMCPMC12408803

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.