Evidence map›Paper›PMID 34767694›Full record

ArticleCNS neuroscience & therapeutics2022

A novel LGI1 mutation causing autosomal dominant lateral temporal lobe epilepsy confirmed by a precise knock-in mouse model.

Ping Hu, Dan Wu, Yan-Yu Zang, Yan Wang, Ya-Ping Zhou, Fengchang Qiao, Xiao-Yu Teng, Jiang Chen, Qing-Qing Li, Jia-Hui Sun and 5 more

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

Article in CNS neuroscience & therapeutics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.8field-weighted citation impact, top 33% 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

3 citing papers in PubMed, 7 citations in OpenAlex.

  1. OPALIN is an LGI1 receptor promoting oligodendrocyte differentiation.Proceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  2. Genes · 2022
    Review
  3. 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

15 authors at 3 institutions in 1 country.

Ping HuDepartment of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health care Hospital, Nanjing, China.
Dan WuMinister of Education Key Laboratory of Model Animal for Disease Study, Model Animal Research Center, Department of Neurology, Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China.
Yan-Yu ZangMinister of Education Key Laboratory of Model Animal for Disease Study, Model Animal Research Center, Department of Neurology, Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China.
Yan WangDepartment of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health care Hospital, Nanjing, China.
Ya-Ping ZhouSchool of Pharmacy, Nanjing Medical University, Nanjing, China.
Fengchang QiaoDepartment of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health care Hospital, Nanjing, China.
Xiao-Yu TengMinister of Education Key Laboratory of Model Animal for Disease Study, Model Animal Research Center, Department of Neurology, Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China.
Jiang ChenMinister of Education Key Laboratory of Model Animal for Disease Study, Model Animal Research Center, Department of Neurology, Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China.
Qing-Qing LiMinister of Education Key Laboratory of Model Animal for Disease Study, Model Animal Research Center, Department of Neurology, Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China.
Jia-Hui SunMinister of Education Key Laboratory of Model Animal for Disease Study, Model Animal Research Center, Department of Neurology, Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China.
TingTing LiuMinister of Education Key Laboratory of Model Animal for Disease Study, Model Animal Research Center, Department of Neurology, Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China.
Hao-Yang FengDepartment of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health care Hospital, Nanjing, China.
Qi-Gang ZhouSchool of Pharmacy, Nanjing Medical University, Nanjing, China.ORCID 0000-0003-3870-3070
Yun Stone ShiMinister of Education Key Laboratory of Model Animal for Disease Study, Model Animal Research Center, Department of Neurology, Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China.
Zhengfeng XuDepartment of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health care Hospital, Nanjing, China.ORCID 0000-0002-7824-7578
China Pharmaceutical University · CNNanjing Maternity and Child Health Care Hospital · CNNanjing Medical University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

aimsThis study aimed to explore the pathomechanism of a mutation on the leucine-rich glioma inactivated 1 gene (LGI1) identified in a family having autosomal dominant lateral temporal lobe epilepsy (ADLTE), using a precise knock-in mouse model. METHODS AND

resultsA novel LGI1 mutation, c.152A>G; p. Asp51Gly, was identified by whole exome sequencing in a Chinese family with ADLTE. The pathomechanism of the mutation was explored by generating Lgi1

conclusionsWe identified a novel epilepsy-causing mutation of LGI1 in humans. The Lgi1

Indexed as

Disease Models, AnimalAnimalsChildEpilepsy, Temporal LobeFemaleHumansIntracellular Signaling Peptides and ProteinsMiceMice, Inbred C57BLMice, TransgenicPedigreeIntracellular Signaling Peptides and ProteinsLGI1 protein, humanADLTEantiepileptic drugsknock-in mouse modelLGI1 mutationprotein secretion

Identifiers

PMID34767694
PMCPMC8739050
OpenAlexW3213197832

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.