Evidence map›Paper›PMID 35733834›Full record

ArticleEpilepsy & behavior reports2022

Long-term course of early onset developmental and epileptic encephalopathy associated with 2q24.3 microduplication.

Takuya Masuda, Hitoshi Osaka, Naomi Tsuchida, Satoko Miyatake, Kou Nishimura, Toshiki Takenouchi, Takao Takahashi, Naomichi Matsumoto, Takanori Yamagata

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Epilepsy & behavior reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.6field-weighted citation impact, top 29% of its field
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

3 citing papers in PubMed, 3 citations in OpenAlex.

  1. Self-limited neonatal epilepsy with 2q24.3 duplications: Case series and literature review.Epileptic disorders : international epilepsy journal with videotape · 2026
    Review
  2. Article
  3. Article
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

9 authors at 4 institutions in 1 country.

Takuya MasudaDepartment of Pediatrics, Jichi Medical University, 2411-1 Yakushiji, Shimotsuke, Tochigi 329-0498, Japan.
Hitoshi OsakaDepartment of Pediatrics, Jichi Medical University, 2411-1 Yakushiji, Shimotsuke, Tochigi 329-0498, Japan.
Naomi TsuchidaDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.
Satoko MiyatakeDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.
Kou NishimuraDepartment of Pediatric Neurology, Ise Keiyu Hospital, 2-7-28 Tokiwa, Ise, Mie 516-0041, Japan.
Toshiki TakenouchiDepartment of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan.
Takao TakahashiDepartment of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan.
Naomichi MatsumotoDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.
Takanori YamagataDepartment of Pediatrics, Jichi Medical University, 2411-1 Yakushiji, Shimotsuke, Tochigi 329-0498, Japan.
Jichi Medical University · JPYokohama City University · JPKeio University Hospital · JPkeiyu Hospital · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Copy number variations (CNVs) have been related to developmental and epileptic encephalopathy (DEE). The 2q24.3 region includes a cluster of genes for voltage-gated sodium channels (SCN) and CNVs in this region cause DEE. However, the long-term course of DEE with a 2q24.3 duplication has not been described. A 20-year-old female developed epileptic encephalopathy in early infancy that was resistant to various antiseizure medications. Her seizures disappeared after starting vitamin B6 therapy. Therefore, her epilepsy was considered pyridoxine-dependent epilepsy. At 16 years old, whole exome sequencing revealed a 2q24.3 microduplication including

Indexed as

2q24.3 microduplicationCLB, clobazamCNVs, copy number variationsCopy number variationsCZP, clonazepamDEE, developmental and epileptic encephalopathyDevelopmental and epileptic encephalopathyEIEEs, Early infantile epileptic encephalopathiesPB, phenobarbitalPHT, phenytoinSCN, voltage-gated sodium channelsVoltage-gated sodium channelVPA, valproic acidWES, whole exome sequencingZNS, zonisamide

Identifiers

PMID35733834
PMCPMC9207545
OpenAlexW4224882618

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.