Evidence map›Paper›PMID 38731820›Full record

ArticleInternational journal of molecular sciences2024

Modulating Endoplasmic Reticulum Chaperones and Mutant Protein Degradation in GABRG2(Q390X) Associated with Genetic Epilepsy with Febrile Seizures Plus and Dravet Syndrome.

Sarah Poliquin, Gerald Nwosu, Karishma Randhave, Wangzhen Shen, Carson Flamm, Jing-Qiong Kang

Abstract read
In one paragraph

Article in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
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

6 citing papers in PubMed.

  1. Article
  2. Review
  3. 4-Phenylbutyrate Rescue inbioRxiv : the preprint server for biology · 2026
    Article
  4. Article
  5. Article
  6. Dravet syndrome: novel insights intoFrontiers in neuroscience · 2025
    Review
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

6 authors.

Sarah PoliquinNeuroscience Graduate Program, Vanderbilt University, Nashville, TN 37232, USA.
Gerald NwosuVanderbilt Brain Institute, Vanderbilt University, Nashville, TN 37232, USA.ORCID 0000-0001-6697-0585
Karishma RandhaveDepartment of Neurology, Vanderbilt University Medical Center, 465 21st Ave South, Nashville, TN 37232, USA.
Wangzhen ShenDepartment of Neurology, Vanderbilt University Medical Center, 465 21st Ave South, Nashville, TN 37232, USA.
Carson FlammDepartment of Neurology, Vanderbilt University Medical Center, 465 21st Ave South, Nashville, TN 37232, USA.
Jing-Qiong KangVanderbilt Brain Institute, Vanderbilt University, Nashville, TN 37232, USA.ORCID 0000-0003-1079-5436

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
Promoting Protein Trafficking with 4-phenylbutyrate to Treat Genetic EpilepsyR01NS121718 · NINDS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Jing-Qiong Kang · 2022 to 2026
$2.2M
Altered synapse formation and function in a novel Dravet syndrome mouse modelR01NS082635 · NINDS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI KANG, JING-QIONG · 2013 to 2017
$1.7M
National Institute of Health Sciences NINDS NS082635; NINDS NS121718NICHD NIH HHS P50 HD103537NINDS NIH HHS R01 NS082635NINDS NIH HHS R01 NS121718
6 · The paper itself

Abstract

A significant number of patients with genetic epilepsy do not obtain seizure freedom, despite developments in new antiseizure drugs, suggesting a need for novel therapeutic approaches. Many genetic epilepsies are associated with misfolded mutant proteins, including

Indexed as

Endoplasmic ReticulumEpilepsies, MyoclonicProteolysisReceptors, GABA-AAnimalsEndoplasmic Reticulum-Associated DegradationEndoplasmic Reticulum Chaperone BiPHEK293 CellsHumansMiceMolecular ChaperonesMutationSeizures, FebrileUbiquitin-Protein LigasesEndoplasmic Reticulum Chaperone BiPGABRG2 protein, humanGabrg2 protein, mouseMolecular ChaperonesReceptors, GABA-ASYVN1 protein, humanUbiquitin-Protein LigasesDravet syndromeE3 ubiquitin ligaseendoplasmic-reticulum-associated protein degradation (ERAD)epilepsyGABAA receptorintracellular traffickingproteostasis

Identifiers

PMID38731820
PMCPMC11083348

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.