Evidence map›Paper›PMID 28460589›Full record

ArticleJournal of neurogenetics

Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.

Fanggeng Zou, Kirsty McWalter, Lindsay Schmidt, Amy Decker, Jonathan D Picker, Sharyn Lincoln, David A Sweetser, Lauren C Briere, Chellamani Harini, Members of the Undiagnosed Diseases Network and 15 more

Registry-linked trialOpen access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of neurogenetics. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 10 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed, 1 pooled it
1.1field-weighted citation impact, top 19% 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.

NCT02450851 recruitingnot on this map

Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network

TypeobservationalSponsorNational Human Genome Research Institute (NHGRI)Ran2015 to 2028Enrolled20,000ConditionsGenetic Disease
3 · Its place in the literature

Who cites it

10 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. Biomolecules · 2023
    Article
  8. Phenotypic Spectrum and Prognosis of Epilepsy Patients WithFrontiers in molecular neuroscience · 2022
    Article
  9. Article
  10. Pathogenic Variants inInternational journal of molecular sciences · 2019
    Article
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

25 authors at 6 institutions in 2 countries.

Fanggeng Zoua GeneDx, Inc , Gaithersburg , MD , USA.
Kirsty McWaltera GeneDx, Inc , Gaithersburg , MD , USA.
Lindsay Schmidta GeneDx, Inc , Gaithersburg , MD , USA.
Amy Deckera GeneDx, Inc , Gaithersburg , MD , USA.
Jonathan D Pickerb Division of Genetics and Genomics , Boston Children's Hospital , Boston , MA , USA.
Sharyn Lincolnb Division of Genetics and Genomics , Boston Children's Hospital , Boston , MA , USA.
David A Sweetserc NIH Common Fund , Undiagnosed Diseases Network , Bethesda , MD , USA.
Lauren C Brierec NIH Common Fund , Undiagnosed Diseases Network , Bethesda , MD , USA.
Chellamani Harinie Division of Neurophysiology , Boston Children's Hospital , Boston , MA , USA.
Members of the Undiagnosed Diseases Networkc NIH Common Fund , Undiagnosed Diseases Network , Bethesda , MD , USA.
Eric Marshf Division of Child Neurology, Departments of Neurology and Pediatrics , Children's Hospital of Philadelphia , Philadelphia , PA , USA.
Livija Medneg Individualized Medical Genetics Center, Division of Human Genetics, Division of Neurology , The Children's Hospital of Philadelphia , Philadelphia , PA , USA.
Raymond Y Wangh Division of Metabolic Disorders , CHOC Children's Hospital , Orange , CA , USA.
Karen Leydikerh Division of Metabolic Disorders , CHOC Children's Hospital , Orange , CA , USA.
Andrew Moweri Neurology , CHOC Children's Hospital , Orange , CA , USA.
Gepke Visserj Wilhelmina Children's Hospital/University Medical Center , Utrecht , the Netherlands.
Inge Cuppenj Wilhelmina Children's Hospital/University Medical Center , Utrecht , the Netherlands.
Koen L van Gassenk Department of Genetics , University Medical Center Utrecht , Utrecht , the Netherlands.
Jasper van der Smagtk Department of Genetics , University Medical Center Utrecht , Utrecht , the Netherlands.
Adeel Yousafl University of North Carolina at Chapel Hill , Chapel Hill , NC , USA.
Michael Tennisonm University of North Carolina at Chapel Hill , Chapel Hill , NC , USA.
Anita Shanmughama GeneDx, Inc , Gaithersburg , MD , USA.
Elizabeth Butlera GeneDx, Inc , Gaithersburg , MD , USA.
Gabriele Richarda GeneDx, Inc , Gaithersburg , MD , USA.
Dianalee McKnighta GeneDx, Inc , Gaithersburg , MD , USA.
Children's Hospital of Orange County · USBoston Children's Hospital · USUniversity Medical Center Utrecht · NLUniversity of North Carolina at Chapel Hill · USChildren's Hospital of Philadelphia · USMassachusetts General Hospital · US

Funding

Coordinating Center for the Undiagnosed Diseases NetworkU01HG007530 · NHGRI · HARVARD MEDICAL SCHOOL · PI KOHANE, ISAAC S. · 2014 to 2022
$30.2M
Center for Integrated Approaches to Undiagnosed DiseasesU01HG007690 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI LOSCALZO, JOSEPH · 2014 to 2022
$10.4M
NHGRI NIH HHS U01 HG007530NHGRI NIH HHS U01 HG007690
6 · The paper itself

Abstract

Pathogenic missense and truncating variants in the GABRG2 gene cause a spectrum of epilepsies, from Dravet syndrome to milder simple febrile seizures. In most cases, pathogenic missense variants in the GABRG2 gene segregate with a febrile seizure phenotype. In this case series, we report a recurrent, de novo missense variant (c0.316 G > A; p.A106T) in the GABRG2 gene that was identified in five unrelated individuals. These patients were described to have a more severe phenotype than previously reported for GABRG2 missense variants. Common features include variable early-onset seizures, significant motor and speech delays, intellectual disability, hypotonia, movement disorder, dysmorphic features and vision/ocular issues. Our report further explores a recurrent pathogenic missense variant within the GABRG2 variant family and broadens the spectrum of associated phenotypes for GABRG2-associated disorders.

Indexed as

Mutation, MissenseSeverity of Illness IndexAbnormalities, MultipleAdolescentChildEpilepsyFemaleHumansInfantIntellectual DisabilityMaleMotor DisordersMovement DisordersMuscle HypotoniaPedigreePhenotypeGABRG2 protein, humanReceptors, GABA-AEpilepsyGABRG2geneticsmissensephenotypeseizures

Identifiers

PMID28460589
PMCPMC6169784
OpenAlexW2611062161

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

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.