Evidence map›Paper›PMID 38951973›Full record

ArticleJournal of clinical neurology (Seoul, Korea)2024

Unusual Voltage-Gated Sodium and Potassium Channelopathies Related to Epilepsy.

Hui Jin Shin, Ara Ko, Se Hee Kim, Joon Soo Lee, Hoon-Chul Kang

Abstract read
In one paragraph

Article in Journal of clinical neurology (Seoul, Korea), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

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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

4 citing papers in PubMed.

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4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

5 authors.

Hui Jin ShinDivision of Pediatric Neurology, Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea.ORCID https://orcid.org/0000-0002-1541-2564
Ara KoDivision of Pediatric Neurology, Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea.ORCID https://orcid.org/0000-0002-3008-8432
Se Hee KimDivision of Pediatric Neurology, Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea.ORCID https://orcid.org/0000-0001-7773-1942
Joon Soo LeeDivision of Pediatric Neurology, Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea.ORCID https://orcid.org/0000-0001-9036-9343
Hoon-Chul KangDivision of Pediatric Neurology, Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea. hipo0207@yuhs.ac.ORCID https://orcid.org/0000-0002-3659-8847

Funding

Korea Health Industry Development Institute HI21C1659National Research Foundation of Korea NRF-2022R1A2C1012522Yonsei University College of Medicine 6-2021-0007
6 · The paper itself

Abstract

background and purposeThere is extensive literature on monogenic epilepsies caused by mutations in familiar channelopathy genes such as

methodsThis observational, retrospective study analyzed pediatric patients with epilepsy who carried pathogenic variants of unusual voltage-gated sodium and potassium channelopathy genes responsible for seizure-associated phenotypes. Targeted next-generation sequencing (NGS) panel tests were performed between November 2016 and June 2022 at Severance Children's Hospital, Seoul, South Korea. Clinical characteristics and the treatment responses to different types of antiseizure medications were further analyzed according to different types of gene mutation.

resultsThis study included 15 patients with the following unusual voltage-gated sodium and potassium channelopathy genes:

conclusionsOur findings broaden the genotypic and phenotypic spectra of less-common voltage-gated sodium and potassium channelopathies associated with epilepsy.

Indexed as

channelopathyepilepsygenetics

Identifiers

PMID38951973
PMCPMC11220354

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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.