Evidence map›Paper›PMID 39085070›Full record

ArticleInternal medicine (Tokyo, Japan)2025

A Novel De Novo Variant in KCNH5 in a Patient with Refractory Epileptic Encephalopathy.

Akihiko Mitsutake, Takashi Matsukawa, Tatsuhiko Naito, Hiroyuki Ishiura, Jun Mitsui, Hiroaki Harada, Keishi Fujio, Jun Fujishiro, Harushi Mori, Shinichi Morishita and 2 more

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In one paragraph

Article in Internal medicine (Tokyo, Japan), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

12 authors.

Akihiko MitsutakeDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Takashi MatsukawaDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Tatsuhiko NaitoDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Hiroyuki IshiuraDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Jun MitsuiDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Hiroaki HaradaDepartment of Rheumatology and Allergy, Graduate School of Medicine, The University of Tokyo, Japan.
Keishi FujioDepartment of Rheumatology and Allergy, Graduate School of Medicine, The University of Tokyo, Japan.
Jun FujishiroDepartment of Pediatric Surgery, Graduate School of Medicine, The University of Tokyo, Japan.
Harushi MoriDepartment of Radiology, School of Medicine, Jichi Medical University, Japan.
Shinichi MorishitaDepartment of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Japan.
Shoji TsujiDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Tatsushi TodaDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We herein report a novel de novo KCNH5 variant in a patient with refractory epileptic encephalopathy. The patient exhibited seizures at 1 year and 7 months old, which gradually worsened, leading to a bedridden status. Brain magnetic resonance imaging (MRI) showed cerebral atrophy and cerebellar hypoplasia. A trio whole-exome sequence analysis identified a de novo heterozygous c.640A>C, p.Lys214Gln variant in KCNH5 that was predicted to be deleterious. Recent studies have linked KCNH5 to various epileptic encephalopathies, with many patients showing normal MRI findings. The present case expands the clinical spectrum of the disease, as it is characterized by severe neurological prognosis, cerebral atrophy, and cerebellar hypoplasia.

Indexed as

Ether-A-Go-Go Potassium ChannelsHumansInfantMagnetic Resonance ImagingEther-A-Go-Go Potassium Channelsde novo variantepileptic encephalopathyKCNH5whole-exome sequencing

Identifiers

PMID39085070
PMCPMC11949652

What OpenQuestion holds

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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.