Evidence map›Paper›PMID 36495145›Full record

ArticleEpilepsia2023

Heterozygous GABA

Shimian Qu, Laurel G Jackson, Chengwen Zhou, DingDing Shen, Wangzhen Shen, Gerald Nwosu, Rachel Howe, Mackenzie A Catron, Carson Flamm, Marshall Biven and 2 more

Erratum issuedOpen access · greenAbstract read
In one paragraph

Article in Epilepsia, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 11 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 1 pooled it
0.9field-weighted citation impact, top 30% 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

11 citing papers in PubMed, 1 synthesis or guideline pooled it, 11 citations in OpenAlex.

  1. Pooled it
  2. GABASynapse (New York, N.Y.) · 2026
    Review
  3. Article
  4. Infantile epileptic spasms syndrome: Mechanisms and therapeutic approaches.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026
    Review
  5. Review
  6. Article
  7. Article
  8. Article
  9. Review
  10. GABAInternational journal of molecular sciences · 2023
    Article
  11. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

12 authors at 1 institution in 1 country.

Shimian QuDepartment of Neurology, Meharry Medical College, Nashville, Tennessee, USA.
Laurel G JacksonDepartment of Neurology, Meharry Medical College, Nashville, Tennessee, USA.ORCID 0000-0002-1587-6537
Chengwen ZhouDepartment of Neurology, Meharry Medical College, Nashville, Tennessee, USA.
DingDing ShenDepartment of Neurology, Meharry Medical College, Nashville, Tennessee, USA.
Wangzhen ShenDepartment of Neurology, Meharry Medical College, Nashville, Tennessee, USA.
Gerald NwosuDepartment of Neurology, Meharry Medical College, Nashville, Tennessee, USA.
Rachel HoweDepartment of Neurology, Meharry Medical College, Nashville, Tennessee, USA.
Mackenzie A CatronDepartment of Neurology, Meharry Medical College, Nashville, Tennessee, USA.
Carson FlammDepartment of Neurology, Meharry Medical College, Nashville, Tennessee, USA.
Marshall BivenDepartment of Neurology, Meharry Medical College, Nashville, Tennessee, USA.
Jing-Qiong KangDepartment of Neurology, Meharry Medical College, Nashville, Tennessee, USA.ORCID 0000-0003-1079-5436
Robert L MacdonaldDepartment of Neurology, Meharry Medical College, Nashville, Tennessee, USA.ORCID 0000-0002-9539-5556
Meharry Medical College · US

Funding

Overall: Eunice Kennedy Shriver Intellectual and Developmental Disabilities Research Center at VanderbiltP50HD103537 · NICHD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Jeffrey L Neul · 2020 to 2026
$10.3M
Pathophysiology and treatment of GABRG2 nonsense epilepsy mutationsR01NS051590 · NINDS · VANDERBILT UNIVERSITY · PI MACDONALD, ROBERT LOUDEN · 2007 to 2014
$2.7M
Promoting Protein Trafficking with 4-phenylbutyrate to Treat Genetic EpilepsyR01NS121718 · NINDS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Jing-Qiong Kang · 2022 to 2026
$2.2M
Subcortical Nodes Within Epileptic Network Control the Cortical Disfacilitation to Prompt Seizure Onset in IGE Mouse ModelR01NS107424 · NINDS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI ZHOU, CHENGWEN · 2018 to 2022
$2.0M
NICHD NIH HHS P50 HD103537NINDS NIH HHS R01 NS051590NINDS NIH HHS R01 NS107424NINDS NIH HHS R01 NS121718
6 · The paper itself

Abstract

objectiveInfantile spasms is an epileptic encephalopathy of childhood, and its pathophysiology is largely unknown. We generated a heterozygous knock-in mouse with the human infantile spasms-associated de novo mutation GABRB3 (c.A328G, p.N110D) to investigate its molecular mechanisms and to establish the Gabrb3

methodsWe used electroencephalography (EEG) and video monitoring to characterize seizure types, and a suite of behavioral tests to identify neurological and behavioral impairment in Gabrb3

resultsThe infantile spasms-associated human de novo mutation GABRB3 (c.A328G, p.N110D) caused epileptic spasms early in development and multiple seizure types in adult Gabrb3 SIGNIFICANCE: The Gabrb3

Indexed as

Spasms, InfantileAnimalsElectroencephalographyHumansMicePyramidal CellsReceptors, GABA-ASeizuresSpasmSyndromeReceptors, GABA-Aanimal modelsepileptic encephalopathyGABRB3infantile spasms syndromethalamocortical circuits

Identifiers

PMID36495145
PMCPMC10101922
OpenAlexW4311028707

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.