ArticleBrain : a journal of neurology2017
De novo GABRG2 mutations associated with epileptic encephalopathies.
Open access · bronzeAbstract readMulticenter Study
In one paragraph
Article in Brain : a journal of neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
58citing papers in PubMed, 2 pooled it
5.9field-weighted citation impact, top 3% of its field
What it found
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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.
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.
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Who cites it
58 citing papers in PubMed, 2 syntheses or guidelines pooled it, 105 citations in OpenAlex.
- Association between theFrontiers in physiology · 2023Pooled it
- Customized multigene panels in epilepsy: the best things come in small packages.Neurogenetics · 2020Pooled it
- Genetic-Epigenetic Interplay in Epilepsy: Pathways, Biomarkers, and Epigenome-Targeted Therapies.Epigenomes · 2026Review
- Beyond Impaired GABAergic Signaling: Inflammation and Metabolic Dysfunction in Genetic Epilepsy Induced by GABRG2 Mutation.Molecular neurobiology · 2025Article
- A knock-in mouse model for GABRG2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment.Cell death discovery · 2025Article
- Phenotypic Spectrum in Individuals With PathogenicNeurology · 2025Article
- Proteostasis regulation of GABABiomedicine & pharmacotherapy = Biomedecine & pharmacotherapie · 2025Review
- Spotlight on mechanism of sudden unexpected death in epilepsy in Dravet syndrome.Translational psychiatry · 2025Review
- Construction of a diagnostic model for temporal lobe epilepsy using interpretable deep learning: disease-associated markers identification.Frontiers in artificial intelligence · 2025Article
- A Comprehensive Overview of the Current Status and Advancements in Various Treatment Strategies against Epilepsy.ACS pharmacology & translational science · 2024Review
- Understanding paralogous epilepsy-associated GABAProceedings of the National Academy of Sciences of the United States of America · 2024Article
- GABAJournal of neurochemistry · 2024Review
- Genotype-driven therapeutics in DEE and metabolic epilepsy: navigating treatment efficacy and drug resistance.Scientific reports · 2024Article
- GABRG2 mutations in genetic epilepsy with febrile seizures plus: structure, roles, and molecular genetics.Journal of translational medicine · 2024Review
- De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.European journal of human genetics : EJHG · 2024Article
- Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity.Brain : a journal of neurology · 2024Article
- Understanding of Consciousness in Absence Seizures: A Literature Review.Neuropsychiatric disease and treatment · 2024Review
- Pathogenic genes implicated in sleep-related hypermotor epilepsy: a research progress update.Frontiers in neurology · 2024Review
- Pathogenicity Prediction of GABAbioRxiv : the preprint server for biology · 2023Article
- Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in mouse and human.Experimental neurology · 2023Article
Corrections and comments
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Authors and funding
18 authors at 7 institutions in 3 countries.
Dingding Shen1 The Graduate Program of Neuroscience, Vanderbilt University, Nashville, TN 37232, USA.
Ciria C Hernandez2 Department of Neurology, Vanderbilt University, Nashville, TN 37240, USA.
Wangzhen Shen2 Department of Neurology, Vanderbilt University, Nashville, TN 37240, USA.
Ningning Hu2 Department of Neurology, Vanderbilt University, Nashville, TN 37240, USA.
Annapurna Poduri3 Epilepsy Genetics Program and the Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
Beth Shiedley3 Epilepsy Genetics Program and the Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
Alex Rotenberg3 Epilepsy Genetics Program and the Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
Alexandre N Datta5 Division of Pediatric Neurology and Developmental Medicine, University of Basel Children's Hospital, Basel 4056, Switzerland.
Steffen Leiz6 Clinic for Children and Adolescents Dritter Orden, Divison of Neuropediatrics, München, 80638 Germany.
Steffi Patzer7 Clinic for Children and Adolescents, Halle/Saale, 06097 Germany.
Rainer Boor8 Department of Pediatric Neurology, Kiel University, Kiel 24118 Germany; Northern German Epilepsy Centre for Children and Adolescents, Schwentinental - Raisdorf, 24223 Germany.
Kerri Ramsey9 Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, 85004 AZ, USA.
Ethan Goldberg10 Departments of Neurology and Paediatrics, Division of Child Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
Ingo Helbig10 Departments of Neurology and Paediatrics, Division of Child Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
Xilma R Ortiz-Gonzalez10 Departments of Neurology and Paediatrics, Division of Child Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
Johannes R Lemke12 Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, 04103 Germany.
Eric D Marsh10 Departments of Neurology and Paediatrics, Division of Child Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
Robert L Macdonald2 Department of Neurology, Vanderbilt University, Nashville, TN 37240, USA robert.macdonald@vanderbilt.edu.
Vanderbilt University · USUniversity of Pennsylvania · USBoston Children's Hospital · USKiel University · DETranslational Genomics Research Institute · USUniversity Hospital Leipzig · DEUniversity of Basel · CH
Funding
Training Program in Neurodevelopmental DisabilitiesT32NS007413 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI AMELIA J EISCH, ERIC D MARSH · 1998 to 2026
$8.9MResearch Project: Sensory and Multisensory Contributions to AutismU54HD083211 · NICHD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI DYKENS, ELISABETH MAY · 2015 to 2019
$7.1MRECOMBINANT/NATIVE GABAA RECEPTORSR01NS033300 · NINDS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI MACDONALD, ROBERT LOUDEN · 1995 to 2016
$5.0MNSADA Training Grant for Child NeurologistsK12NS049453 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI TENNEKOON, GIHAN I · 2006 to 2015
$4.4MDynamic 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
$921kNICHD NIH HHS U54 HD083211NINDS NIH HHS K08 NS097633NINDS NIH HHS K12 NS049453NINDS NIH HHS R01 NS033300NINDS NIH HHS T32 NS007413
Abstract
Epileptic encephalopathies are a devastating group of severe childhood onset epilepsies with medication-resistant seizures and poor developmental outcomes. Many epileptic encephalopathies have a genetic aetiology and are often associated with de novo mutations in genes mediating synaptic transmission, including GABA
Indexed as
ChildChild, PreschoolDrug Resistant EpilepsyElectrophysiological PhenomenaEpilepsyExomeFemaleHEK293 CellsHumansMaleMutationPatch-Clamp TechniquesPhenotypeReceptors, GABA-AGABRG2 protein, humanReceptors, GABA-Ade novo mutationepileptic encephalopathyGABAA receptorGABRG2next generation sequencing
Identifiers
What OpenQuestion holds
Textmetadata
Read underepoch 390
Registered trials
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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.