Evidence map›Paper›PMID 26063919›Full record

ArticleThe Journal of neuroscience : the official journal of the Society for Neuroscience2015

Disruption of Fgf13 causes synaptic excitatory-inhibitory imbalance and genetic epilepsy and febrile seizures plus.

Ram S Puranam, Xiao Ping He, Lijun Yao, Tri Le, Wonjo Jang, Catherine W Rehder, Darrell V Lewis, James O McNamara

Open access · bronzeAbstract read
In one paragraph

Article in The Journal of neuroscience : the official journal of the Society for Neuroscience, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.

0numbers the graph read from it
0cells of the map it votes in
53citing papers in PubMed
5.4field-weighted citation impact, top 4% 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

53 citing papers in PubMed, 90 citations in OpenAlex.

  1. Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia.Movement disorders : official journal of the Movement Disorder Society · 2026
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  16. X-Linked Epilepsies: A Narrative Review.International journal of molecular sciences · 2024
    Review
  17. Review
  18. Review
  19. Biallelic structural variations withinLife science alliance · 2023
    Article
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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

8 authors at 4 institutions in 2 countries.

Ram S PuranamDepartment of Neurobiology, Department of Neurology.ORCID http://orcid.org/0000-0003-4383-3849
Xiao Ping HeDepartment of Neurobiology, Department of Neurology.
Lijun YaoDepartment of Neurobiology.
Tri LeDuke University School of Medicine.
Wonjo JangDepartment of Neurobiology.
Catherine W RehderDepartment of Pathology.
Darrell V LewisDepartment of Pediatrics (Neurology), and.ORCID http://orcid.org/0000-0003-2917-7822
James O McNamaraDepartment of Neurobiology, Department of Neurology, Center for Translational Neuroscience, Duke University Medical Center, Durham, North Carolina 27710 jmc@neuro.duke.edu.
Neurology, Inc · USInstitute of Neurobiology · BGDuke University · USDuke University Hospital · US

Funding

Neurotrophins and EpileptogenesisR01NS056217 · NINDS · DUKE UNIVERSITY · PI MCNAMARA, JAMES O. · 2006 to 2023
$6.7M
Howard Hughes Medical InstituteNINDS NIH HHS NS056217NINDS NIH HHS R01 NS056217
6 · The paper itself

Abstract

We identified a family in which a translocation between chromosomes X and 14 was associated with cognitive impairment and a complex genetic disorder termed "Genetic Epilepsy and Febrile Seizures Plus" (GEFS(+)). We demonstrate that the breakpoint on the X chromosome disrupted a gene that encodes an auxiliary protein of voltage-gated Na(+) channels, fibroblast growth factor 13 (Fgf13). Female mice in which one Fgf13 allele was deleted exhibited hyperthermia-induced seizures and epilepsy. Anatomic studies revealed expression of Fgf13 mRNA in both excitatory and inhibitory neurons of hippocampus. Electrophysiological recordings revealed decreased inhibitory and increased excitatory synaptic inputs in hippocampal neurons of Fgf13 mutants. We speculate that reduced expression of Fgf13 impairs excitability of inhibitory interneurons, resulting in enhanced excitability within local circuits of hippocampus and the clinical phenotype of epilepsy. These findings reveal a novel cause of this syndrome and underscore the powerful role of FGF13 in control of neuronal excitability.

Indexed as

EpilepsyAge FactorsAnimalsAnimals, NewbornCell LineCognition DisordersDisease Models, AnimalEmbryo, MammalianFamily HealthFemaleFeverFibroblast Growth FactorsHippocampusHumansMaleMicefibroblast growth factor 13Fibroblast Growth FactorsNAV1.1 Voltage-Gated Sodium ChannelNerve Tissue Proteinsanimal modelepilepsyexcitatory inhibitory imbalanceFgf13GEFS+translocation

Identifiers

PMID26063919
PMCPMC4461691
OpenAlexW1602874868

What OpenQuestion holds

Textmetadata
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.