Evidence map›Paper›PMID 39915231›Full record

Observational studyBrain and behavior2025

Identification of Genetic Variants in Status Epilepticus Associated With Fever.

Hiroaki Hanafusa, Hiroshi Yamaguchi, Naoya Morisada, Ming Juan Ye, Shizuka Oikawa, Shoichi Tokumoto, Masahiro Nishiyama, Kandai Nozu, Hiroaki Nagase

Abstract readObservational Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study in Brain and behavior, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Hiroaki HanafusaDepartment of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, Japan.
Hiroshi YamaguchiDepartment of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, Japan.ORCID https://orcid.org/0000-0002-0787-964X
Naoya MorisadaDepartment of Genetics, Hyogo Prefectural Kobe Children's Hospital, Hyogo, Japan.
Ming Juan YeDepartment of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, Japan.
Shizuka OikawaDepartment of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, Japan.
Shoichi TokumotoDepartment of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, Japan.
Masahiro NishiyamaDepartment of Neurology, Hyogo Prefectural Kobe Children's Hospital, Hyogo, Japan.
Kandai NozuDepartment of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, Japan.ORCID https://orcid.org/0000-0002-0290-3137
Hiroaki NagaseDepartment of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, Japan.

Funding

Grant-in-Aid for Scientific Research 20K17894Grant-in-Aid for Scientific Research 23K15615Kawano Masanori Memorial Public Interest Incorporated Foundation for Promotion of Pediatrics K046244
6 · The paper itself

Abstract

purposeStatus epilepticus associated with fever (SEF) is often encountered in pediatric emergency departments, and some patients develop neurological emergencies, such as acute encephalopathy (AE). Although numerous genetic variants of developmental and epileptic encephalopathy (DEE) have been reported, the frequency of these disease-associated variants of SEF is unknown. The first aim of this study was to investigate the associated genetic variants of SEF. The second aim was to compare the variations in genes between SEF and DEE.

methodThis retrospective, clinical observational study included patients with SEF or DEE who visited Kobe University Hospital or Kobe University affiliated hospitals and provided consent for a genetic diagnosis of SEF or DEE between January 1, 2021, and December 31, 2022. FINDING: Fifteen patients with SEF and 27 patients with DEE consented to a genetic diagnosis and were included in the study. The detection rate of genetic variants was lower in patients with SEF (26.7%) than in those with DEE (63.0%), although there is no statistically significant difference (p = 0.05, Fisher's exact test). Analysis of patients with DEE revealed a wide variety of causative genes for DEE (16 different genes), whereas in SEF cases, only SCN1A variants were detected.

conclusionOur study is the first to clarify the detection rates of different genetic variants in SEF. Patients with SEF may have less genetic involvement in the onset of epileptic seizures, compared to those with DEE.

Indexed as

FeverStatus EpilepticusAdolescentChildChild, PreschoolFemaleGenetic VariationHumansInfantMaleRetrospective Studieschildrenepilepsygene panelmicroarrayseizuretarget gene sequencingwhole exome sequencing

Identifiers

PMID39915231
PMCPMC11802276

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