Evidence map›Paper›PMID 28688853›Full record

ArticleNeurobiology of disease2017

GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variant.

Michelle M Giddens, Jennifer C Wong, Jason P Schroeder, Emily G Farrow, Brilee M Smith, Sharon Owino, Sarah E Soden, Rebecca C Meyer, Carol Saunders, J B LePichon and 3 more

Open access · greenAbstract readCase Reports
In one paragraph

Article in Neurobiology of disease, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.

0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed
1.6field-weighted citation impact, top 17% 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

26 citing papers in PubMed, 46 citations in OpenAlex.

  1. Article
  2. Rare GPR37L1 Variants Reveal Potential Association between GPR37L1 and Disorders of Anxiety and Migraine.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2024
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  11. Impaired Aversive Memory Formation in GPR37L1KO Mice.International journal of molecular sciences · 2022
    Article
  12. Article
  13. Review
  14. Article
  15. Mouse Mutants ofInternational journal of molecular sciences · 2022
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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

13 authors at 2 institutions in 1 country.

Michelle M GiddensDepartment of Pharmacology, Emory University School of Medicine, Atlanta, GA, USA.
Jennifer C WongDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Jason P SchroederDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Emily G FarrowCenter for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA.
Brilee M SmithDepartment of Pharmacology, Emory University School of Medicine, Atlanta, GA, USA.
Sharon OwinoDepartment of Pharmacology, Emory University School of Medicine, Atlanta, GA, USA.
Sarah E SodenCenter for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA.
Rebecca C MeyerDepartment of Pharmacology, Emory University School of Medicine, Atlanta, GA, USA.
Carol SaundersCenter for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA.
J B LePichonCenter for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA.
David WeinshenkerDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Andrew EscaygDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Randy A HallDepartment of Pharmacology, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: rhall3@emory.edu.
Emory University · USChildren's Mercy Hospital · US

Funding

The Emory Alzheimer's Disease CenterP50AG025688 · NIA · EMORY UNIVERSITY · PI LEVEY, ALLAN I · 2005 to 2019
$25.7M
ENNCF - Viral Vector CoreP30NS055077 · NINDS · EMORY UNIVERSITY · PI LEVEY, ALLAN I · 2008 to 2018
$6.8M
Graduate Training in the Pharmacological StudiesT32GM008602 · NIGMS · EMORY UNIVERSITY · PI HALL, RANDY A. · 1996 to 2021
$5.1M
TRAINING IN TRANSLATIONAL RESEARCH IN NEUROLOGYT32NS007480 · NINDS · EMORY UNIVERSITY · PI LEVEY, ALLAN I · 2000 to 2020
$4.5M
A novel target for the treatment of temporal lobe epilepsyR01NS090319 · NINDS · EMORY UNIVERSITY · PI ESCAYG, ANDREW P, GOLDIN, ALAN L · 2015 to 2018
$1.9M
GPR37 & GPR37L1 signaling pathways promoting cell survival: relevance to strokeR01NS088413 · NINDS · EMORY UNIVERSITY · PI HALL, RANDY A. · 2014 to 2018
$1.9M
GPR37L1 mutation associated with a novel neurological disorderR21NS091986 · NINDS · EMORY UNIVERSITY · PI HALL, RANDY A. · 2015 to 2016
$429k
NIA NIH HHS P50 AG025688NIGMS NIH HHS T32 GM008602NINDS NIH HHS P30 NS055077NINDS NIH HHS R01 NS088413NINDS NIH HHS R01 NS090319NINDS NIH HHS R21 NS091986NINDS NIH HHS T32 NS007480
6 · The paper itself

Abstract

Progressive myoclonus epilepsies (PMEs) are disorders characterized by myoclonic and generalized seizures with progressive neurological deterioration. While several genetic causes for PMEs have been identified, the underlying causes remain unknown for a substantial portion of cases. Here we describe several affected individuals from a large, consanguineous family presenting with a novel PME in which symptoms begin in adolescence and result in death by early adulthood. Whole exome analyses revealed that affected individuals have a homozygous variant in GPR37L1 (c.1047G>T [Lys349Asn]), an orphan G protein-coupled receptor (GPCR) expressed predominantly in the brain. In vitro studies demonstrated that the K349N substitution in Gpr37L1 did not grossly alter receptor expression, surface trafficking or constitutive signaling in transfected cells. However, in vivo studies revealed that a complete loss of Gpr37L1 function in mice results in increased seizure susceptibility. Mice lacking the related receptor Gpr37 also exhibited an increase in seizure susceptibility, while genetic deletion of both receptors resulted in an even more dramatic increase in vulnerability to seizures. These findings provide evidence linking GPR37L1 and GPR37 to seizure etiology and demonstrate an association between a GPR37L1 variant and a novel progressive myoclonus epilepsy.

Indexed as

Genetic Predisposition to DiseaseAdolescentAnimalsBrainChildFemaleGenetic VariationHEK293 CellsHumansMaleMiceMice, Inbred C57BLMice, KnockoutMyoclonic Epilepsies, ProgressiveNIH 3T3 CellsReceptors, G-Protein-CoupledGPR37L1 protein, humanGpr37l1 protein, mouseGpr37 protein, mouseReceptors, G-Protein-CoupledBrainDiseaseEpilepsyMutantMutationOrphan GPCRReceptors

Identifiers

PMID28688853
PMCPMC5569905
OpenAlexW2733251956

What OpenQuestion holds

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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.