Evidence map›Paper›PMID 37353494›Full record

ArticleHuman genome variation2023

The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus.

Yu Kobayashi, Jun Tohyama, Noriyuki Akasaka, Kei Yamada, Moemi Hojo, Eijun Seki, Masaki Miura, Noriko Soma, Takeshi Ono, Mitsuhiro Kato and 3 more

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

Article in Human genome variation, 2023. 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
0.3field-weighted citation impact, top 30% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. 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

13 authors at 6 institutions in 1 country.

Yu KobayashiDepartment of Child Neurology, National Hospital Organization Nishiniigata Chuo Hospital, Niigata, Japan.
Jun TohyamaDepartment of Child Neurology, National Hospital Organization Nishiniigata Chuo Hospital, Niigata, Japan. tohyama.jun.um@mail.hosp.go.jp.
Noriyuki AkasakaDepartment of Pediatrics, Niigata Prefecture Hamagumi Medical Rehabilitation Center for Disabled Children, Niigata, Japan.
Kei YamadaDepartment of Child Neurology, National Hospital Organization Nishiniigata Chuo Hospital, Niigata, Japan.
Moemi HojoDepartment of Child Neurology, National Hospital Organization Nishiniigata Chuo Hospital, Niigata, Japan.
Eijun SekiDepartment of Child Neurology, National Hospital Organization Nishiniigata Chuo Hospital, Niigata, Japan.
Masaki MiuraDepartment of Child Neurology, National Hospital Organization Nishiniigata Chuo Hospital, Niigata, Japan.
Noriko SomaDepartment of Child Neurology, National Hospital Organization Nishiniigata Chuo Hospital, Niigata, Japan.
Takeshi OnoDepartment of Pediatrics, Niigata University Medical and Dental Hospital, Niigata, Japan.
Mitsuhiro KatoDepartment of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
Mitsuko NakashimaDepartment of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.ORCID http://orcid.org/0000-0001-7941-1774
Hirotomo SaitsuDepartment of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.ORCID http://orcid.org/0000-0003-0723-0960
Naomichi MatsumotoDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
National Hospital Organization · JPHamamatsu University School of Medicine · JPNiigata University Medical and Dental Hospital · JPShowa University · JPUniversity of Niigata Prefecture · JPYokohama City University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

HCN1 is one of four genes encoding hyperpolarization-activated cyclic nucleotide-gated channels. The phenotypic spectrum associated with HCN1 variants ranges from neonatal developmental and epileptic encephalopathy to idiopathic generalized epilepsy. We report a Japanese patient with repetitive focal seizures and super-refractory status epilepticus since early infancy caused by a de novo HCN1 variant, NM_021072.4, c.1195T>C, p.(Ser399Pro). This variant might have a dominant-negative effect on channel function, leading to severe epileptic encephalopathy.

Identifiers

PMID37353494
PMCPMC10290089
OpenAlexW4381804933

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

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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.