Evidence map›Paper›PMID 28377535›Full record

ArticleJournal of medical genetics2017

Konrad Platzer, Hongjie Yuan, Hannah Schütz, Alexander Winschel, Wenjuan Chen, Chun Hu, Hirofumi Kusumoto, Henrike O Heyne, Katherine L Helbig, Sha Tang and 65 more

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of medical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 140 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
140citing papers in PubMed, 1 pooled it
17.8field-weighted citation impact, top 1% 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

140 citing papers in PubMed, 1 synthesis or guideline pooled it, 252 citations in OpenAlex.

  1. Pooled it
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  16. Science advances · 2025
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  18. Comprehensive characterization of the RNA editing landscape in the human aging brains with Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
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  20. Article

80 more citing papers are in PubMed but not listed here.

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

75 authors at 20 institutions in 11 countries.

Konrad PlatzerInstitute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
Hongjie YuanDepartment of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA.
Hannah SchützDepartment of Neurophysiology and Neurosensory Systems, Technical University Darmstadt, Darmstadt, Hessen, Germany.
Alexander WinschelDepartment of Neurophysiology and Neurosensory Systems, Technical University Darmstadt, Darmstadt, Hessen, Germany.
Wenjuan ChenDepartment of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA.
Chun HuDepartment of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA.
Hirofumi KusumotoDepartment of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA.
Henrike O HeyneInstitute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
Katherine L HelbigDivision of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
Sha TangDivision of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
Marcia C WillingDepartment of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.
Brad T TinkleAdvocate Children's Hospital, Park Ridge, Illinois, USA.
Darius J AdamsGenetics and Metabolism, Goryeb Children's Hospital, Atlantic Health System, Morristown, New Jersey, USA.
Christel DepienneINSERM, U 1127, Sorbonne Universités, UPMC Université Paris 06, CNRS, UMR 7225, Institut du cerveau et de la moelle épinière (ICM), Paris, France.
Boris KerenINSERM, U 1127, Sorbonne Universités, UPMC Université Paris 06, CNRS, UMR 7225, Institut du cerveau et de la moelle épinière (ICM), Paris, France.
Cyril MignotDépartement de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, GRC UPMC "Déficiences Intellectuelles et Autisme", Hôpital de la Pitié-Salpêtrière, Paris, France.
Eirik FrengenDepartment of Medical Genetics, Oslo University Hospitals and University of Oslo, Oslo, Norway.
Petter StrømmeDepartment of Pediatrics, Oslo University Hospitals and University of Oslo, Oslo, Norway.
Saskia BiskupPractice for Human Genetics and CeGaT GmbH, Tübingen, Germany.
Dennis DöckerPractice for Human Genetics and CeGaT GmbH, Tübingen, Germany.
Tim M StromInstitute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Heather C MeffordDepartment of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.
Candace T MyersDepartment of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.
Alison M MuirDepartment of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.
Amy LaCroixDepartment of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.
Lynette SadleirDepartment of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.
Ingrid E SchefferDepartment of Medicine, University of Melbourne, Austin Health and Royal Children's Hospital, Melbourne, Victoria, Australia.
Eva BrilstraDepartment of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands.
Mieke M van HaelstDepartment of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands.
Jasper J van der SmagtDepartment of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands.
Levinus A BokDepartment of Paediatrics, Màxima Medical Centre, Veldhoven, The Netherlands.
Rikke S MøllerThe Danish Epilepsy Centre Filadelfia, Dianalund, Denmark.
Uffe B JensenDepartment of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
John J MillichapDepartments of Pediatrics, Epilepsy Center and Division of Neurology Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Anne T BergDepartments of Pediatrics, Epilepsy Center and Division of Neurology Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Ethan M GoldbergDivision of Neurology, The Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Isabelle De BieDepartment of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.
Stephanie FoxDepartment of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.
Philippe MajorDepartment of Neurological Sciences, Université de Montréal, CHU Ste-Justine, Montreal, Canada.
Julie R JonesGreenwood Genetic Center, Greenwood, South Carolina, USA.
Elaine H ZackaiDepartment of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Rami Abou JamraInstitute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
Arndt RolfsCentogene AG, Rostock, Germany.
Richard J LeventerDepartment of Neurology, Royal Children's Hospital, Melbourne, Victoria, Australia.
John A LawsonDepartment of Neurology, Sydney Children's Hospital, Sydney, New South Wales, Australia.
Tony RoscioliGenome.One, Sydney, New South Wales, Australia.
Floor E JansenDepartment of Child Neurology, Brain Center Rudolf Magnus, University Medical Center, Utrecht, The Netherlands.
Emmanuelle RanzaService of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
Christian M KorffDepartment of Child and Adolescent, Neurology Unit, University Hospitals of Geneva, Geneva, Switzerland.
Anna-Elina LehesjokiThe Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland.
Carolina CourageThe Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland.
Tarja LinnankiviDepartment of Pediatric Neurology, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Douglas R SmithCourtagen Life Sciences, Woburn, Massachusetts, USA.
Christine StanleyCourtagen Life Sciences, Woburn, Massachusetts, USA.
Mark MintzThe Center for Neurological and Neurodevelopmental Health and the Clinical Research Center of New Jersey, Voorhees, New Jersey, USA.
Dianalee McKnightGeneDx, Gaithersburg, Maryland, USA.
Amy DeckerGeneDx, Gaithersburg, Maryland, USA.
Wen-Hann TanDivision of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
Mark A TarnopolskyDepartment of Pediatrics, McMaster University Children's Hospital, Hamilton, Ontario, Canada.
Lauren I BradyDepartment of Pediatrics, McMaster University Children's Hospital, Hamilton, Ontario, Canada.
Markus WolffDepartment of Pediatric Neurology and Developmental Medicine, University Children's Hospital, Tubingen, Germany.
Lutz DonditDepartment of Pediatric Neurology and Center for Developmental Medicine, Olgahospital Stuttgart, Stuttgart, Germany.
Helio F PedroHackensack University Medical Center, Hackensack, New Jersey, USA.
Sarah E ParisottoHackensack University Medical Center, Hackensack, New Jersey, USA.
Kelly L JonesDepartment of Pediatrics, Division of Medical Genetics, University of Mississippi Medical Center, Jackson, Mississippi, USA.
Anup D PatelNationwide Children's Hospital, Columbus, Ohio, USA.
David N FranzDepartment of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Rena VanzoLineagen, Inc., Salt Lake City, Utah, USA.
Elysa MarcoDepartment of Neurology, University of San Francisco School of Medicine, San Francisco, California, USA.
Judith D RanellsDepartment of Pediatrics, University of South Florida, Tampa, Florida, USA.
Nataliya Di DonatoInstitute for Clinical Genetics, Carl Gustav Carus Faculty of Medicine, TU Dresden, Dresden, Germany.
William B DobynsCenter for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
Bodo LaubeDepartment of Neurophysiology and Neurosensory Systems, Technical University Darmstadt, Darmstadt, Hessen, Germany.
Stephen F TraynelisDepartment of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA.
Johannes R LemkeInstitute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
Emory University · USUniversity of Washington · USTechnical University of Darmstadt · DEUtrecht University · NLAmbry Genetics (United States) · USCeGaT (Germany) · DECentogene (Germany) · DEChildren's Hospital of Philadelphia · USCourtagen Life Sciences (United States) · USHackensack University Medical Center · USMcMaster Children's Hospital · CAMontreal Children's Hospital · CAUniversity Hospital Leipzig · DEUniversity Hospital of Geneva · CHUniversity of Oslo · NOAarhus University Hospital · DKAdvocate Children's Hospital · USAtlantic Health System · USBoston Children's Hospital · USCentre d'Épidémiologie sur les Causes Médicales de Décès · FR

Funding

Atlanta Clinical and Translational Science Institute (ACTSI) RenewalUL1TR000454 · NCATS · EMORY UNIVERSITY · PI STEPHENS, DAVID S · 2012 to 2016
$25.8M
Intellectual and Developmental Disabilities Research CenterU54HD083091 · NICHD · UNIVERSITY OF WASHINGTON · PI DOHERTY, DANIEL · 2014 to 2019
$7.9M
A Genomic Approach to EpilepsyR01NS069605 · NINDS · UNIVERSITY OF WASHINGTON · PI MEFFORD, HEATHER C. · 2010 to 2019
$4.9M
NSADA Training Grant for Child NeurologistsK12NS049453 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI TENNEKOON, GIHAN I · 2006 to 2015
$4.4M
Control of Glutamate Receptor FunctionR01NS036654 · NINDS · EMORY UNIVERSITY · PI TRAYNELIS, STEPHEN F · 1998 to 2018
$3.7M
Mechanism of Action of Novel Subunit-Selective NMDA Receptor ModulatorsR01NS065371 · NINDS · EMORY UNIVERSITY · PI TRAYNELIS, STEPHEN F · 2009 to 2018
$3.4M
Megalencephaly and segmental brain overgrowth in humansR01NS092772 · NINDS · SEATTLE CHILDREN'S HOSPITAL · PI MILLEN, KATHLEEN JOYCE · 2015 to 2019
$3.3M
NMDAR Mutations & Neurodevelopmental Disorder: from Mechanism to Targeted TherapyR01HD082373 · NICHD · EMORY UNIVERSITY · PI YUAN, HONGJIE · 2015 to 2025
$3.3M
Control of glutamate receptor functionR37NS036654 · NINDS · EMORY UNIVERSITY · PI TRAYNELIS, STEPHEN F · 2007 to 2013
$2.4M
Functional effects of ion channel mutations found via exome sequencingR24NS092989 · NINDS · EMORY UNIVERSITY · PI TRAYNELIS, STEPHEN F · 2016 to 2019
$1.1M
Dynamic two-photon calcium imaging and optogenetic manipulation of epileptic brain circuits in an experimental model of temporal lobe epilepsyK08NS097633 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI GOLDBERG, ETHAN M · 2016 to 2020
$921k
NCATS NIH HHS UL1 TR000454NICHD NIH HHS R01 HD082373NICHD NIH HHS U54 HD083091NINDS NIH HHS K08 NS097633NINDS NIH HHS K12 NS049453NINDS NIH HHS R01 NS036654NINDS NIH HHS R01 NS065371NINDS NIH HHS R01 NS069605NINDS NIH HHS R01 NS092772NINDS NIH HHS R24 NS092989NINDS NIH HHS R37 NS036654Wellcome Trust
6 · The paper itself

Abstract

backgroundWe aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of

methodsData of 48 individuals with de novo

resultsOverall, de novo variants in 86 patients were classified as pathogenic/likely pathogenic. Patients presented with neurodevelopmental disorders and a spectrum of hypotonia, movement disorder, cortical visual impairment, cerebral volume loss and epilepsy. Six patients presented with a consistent malformation of cortical development (MCD) intermediate between tubulinopathies and polymicrogyria. Missense variants cluster in transmembrane segments and ligand-binding sites. Functional consequences of variants were diverse, revealing various potential gain-of-function and loss-of-function mechanisms and a retained sensitivity to the use-dependent blocker memantine. However, an objectifiable beneficial treatment response in the respective patients still remains to be demonstrated.

conclusionsIn addition to previously known features of intellectual disability, epilepsy and autism, we found evidence that

Indexed as

Brain DiseasesHeterozygoteHumansMagnetic Resonance ImagingMemantineMolecular Targeted TherapyMutationNeuroimagingPhenotypeReceptors, N-Methyl-D-AspartateMemantineNR2B NMDA receptorReceptors, N-Methyl-D-Aspartatechannelopathyclustering of missense variantsepileptic encephalopathypathogenic GRIN2B mutationsprecision medicine

Identifiers

PMID28377535
PMCPMC5656050
OpenAlexW2604355298

What OpenQuestion holds

Textmetadata
LicenceTDM
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.