ArticleNeurogenetics2018
ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation.
Abstract read
In one paragraph
Article in Neurogenetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed
1.2field-weighted citation impact, top 25% of its field
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.
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.
Who cites it
34 citing papers in PubMed, 49 citations in OpenAlex.
- STXBP1 Variants Associated With Epilepsy With Variable Severity.CNS neuroscience & therapeutics · 2026Article
- GABACellular and molecular neurobiology · 2026Review
- Developmental and Epileptic Encephalopathy Due to a NovelRevista de neurologia · 2026Article
- Autism-associated ARHGEF9 variants impair GABAergic synapses and ultrasonic communication by reducing gephyrin phosphorylation.Molecular psychiatry · 2026Article
- Epilepsy in NHS actin remodeling regulator gene (NHS) and genotype-phenotype correlations.Pediatric research · 2026Article
- SLC2A1 variants cause late-onset epilepsy and the genetic-dependent stage feature : For the China Epilepsy Gene 1.0 Project.Acta epileptologica · 2024Article
- Association analysis of polymorphisms inFrontiers in genetics · 2024Article
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- A novelMolecular medicine reports · 2022Article
- ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration.Molecular genetics & genomic medicine · 2022Article
- CELSR3 variants are associated with febrile seizures and epilepsy with antecedent febrile seizures.CNS neuroscience & therapeutics · 2022Article
- Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABAMolecular psychiatry · 2022Article
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- Expanding the phenotypic spectrum ofFrontiers in molecular neuroscience · 2022Article
- RecessiveFrontiers in molecular neuroscience · 2022Article
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Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 2 institutions in 1 country.
Jing-Yang WangInstitute of Neuroscience and Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University Please check if the affiliations are presented correctly.The affiliations are presented correctly., Chang-Gang-Dong Road 250, Guangzhou, 510260, China.
Peng ZhouInstitute of Neuroscience and Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University Please check if the affiliations are presented correctly.The affiliations are presented correctly., Chang-Gang-Dong Road 250, Guangzhou, 510260, China.
Jie WangInstitute of Neuroscience and Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University Please check if the affiliations are presented correctly.The affiliations are presented correctly., Chang-Gang-Dong Road 250, Guangzhou, 510260, China.
Bin TangInstitute of Neuroscience and Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University Please check if the affiliations are presented correctly.The affiliations are presented correctly., Chang-Gang-Dong Road 250, Guangzhou, 510260, China.
Tao SuInstitute of Neuroscience and Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University Please check if the affiliations are presented correctly.The affiliations are presented correctly., Chang-Gang-Dong Road 250, Guangzhou, 510260, China.
Xiao-Rong LiuInstitute of Neuroscience and Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University Please check if the affiliations are presented correctly.The affiliations are presented correctly., Chang-Gang-Dong Road 250, Guangzhou, 510260, China.
Bing-Mei LiInstitute of Neuroscience and Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University Please check if the affiliations are presented correctly.The affiliations are presented correctly., Chang-Gang-Dong Road 250, Guangzhou, 510260, China.
Heng MengDepartment of Neurology, The First Affiliated Hospital of Jinan University, Guangdong, 510630, China.
Yi-Wu ShiInstitute of Neuroscience and Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University Please check if the affiliations are presented correctly.The affiliations are presented correctly., Chang-Gang-Dong Road 250, Guangzhou, 510260, China.
Yong-Hong YiInstitute of Neuroscience and Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University Please check if the affiliations are presented correctly.The affiliations are presented correctly., Chang-Gang-Dong Road 250, Guangzhou, 510260, China.
Na HeInstitute of Neuroscience and Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University Please check if the affiliations are presented correctly.The affiliations are presented correctly., Chang-Gang-Dong Road 250, Guangzhou, 510260, China. hena@gzhmu.edu.cn.
Wei-Ping LiaoInstitute of Neuroscience and Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University Please check if the affiliations are presented correctly.The affiliations are presented correctly., Chang-Gang-Dong Road 250, Guangzhou, 510260, China. wpliao@163.net.ORCID 0000-0001-9929-9185
Ministry of Education of the People's Republic of China · CNJinan University · CN
Funding
the National Natural Science Foundation of China 81501124the National Natural Science Foundation of China 81571273the National Natural Science Foundation of China 81571274
Abstract
ARHGEF9 resides on Xq11.1 and encodes collybistin, which is crucial in gephyrin clustering and GABA
Indexed as
Biological Variation, PopulationAdultChildEpilepsyFemaleGenotypeHumansIntellectual DisabilityMaleMutation, MissensePhenotypeProtein DomainsRho Guanine Nucleotide Exchange FactorsYoung AdultARHGEF9 protein, humanRho Guanine Nucleotide Exchange FactorsARHGEF9CollybistinEpilepsyEpileptic encephalopathyIntellectual disabilityWhole exome sequencing
Identifiers
What OpenQuestion holds
Textmetadata
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.