ArticleScientific reports2021
Multiplex gene and phenotype network to characterize shared genetic pathways of epilepsy and autism.
Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 47 citations in OpenAlex.
- Knowledge-guided contextual gene set analysis with large language models.Bioinformatics (Oxford, England) · 2026Article
- In silico Genotype-Phenotype Correlation Analysis of Inherited Variations in Autism Spectrum Disorder Families Identify an Interplay between Sensory Function and Repetitive-behaviour Genes.Journal of molecular neuroscience : MN · 2026Article
- Endophenotype Research in Epilepsy Across Time.Brain sciences · 2025Article
- A Mutation in the ANK2 Gene Causing ASD and a Review of the Literature.Molecular genetics & genomic medicine · 2025Review
- Late-onset diagnosis of SHINE syndrome in an adolescent with developmental delay: Case report.SAGE open medical case reports · 2025Article
- High neural noise in autism: A hypothesis currently at the nexus of explanatory power.Heliyon · 2024Review
- Unveiling hidden connections in omics data via pyPARAGON: an integrative hybrid approach for disease network construction.Briefings in bioinformatics · 2024Article
- Review
- The Relationship between Retained Primitive Reflexes and Hemispheric Connectivity in Autism Spectrum Disorders.Brain sciences · 2023Article
- Early developmental deletion of forebrain Ank2 causes seizure-related phenotypes by reshaping the synaptic proteome.Cell reports · 2023Article
- Kv7/KCNQ potassium channels in cortical hyperexcitability and juvenile seizure-related death in Ank2-mutant mice.Nature communications · 2023Article
- Modeling Autism Spectrum Disorders with Induced Pluripotent Stem Cell-Derived Brain Organoids.Biomolecules · 2023Review
- Article
- PLEX.I: a tool to discover features in multiplex networks that reflect clinical variation.Frontiers in genetics · 2023Article
- Differential expression of GABAFrontiers in cellular neuroscience · 2023Article
- Contribution of copy number variations to the risk of severe eating disorders.Psychiatry and clinical neurosciences · 2022Article
- Functional divergence of the two Elongator subcomplexes during neurodevelopment.EMBO molecular medicine · 2022Article
- Identification of the Shared Gene Signatures between Autism Spectrum Disorder and Epilepsy via Bioinformatic Analysis.Computational and mathematical methods in medicine · 2022Article
- Knowledge Atlas of the Co-Occurrence of Epilepsy and Autism: A Bibliometric Analysis and Visualization Using VOSviewer and CiteSpace.Neuropsychiatric disease and treatment · 2022Article
- Mechanisms underlying the role of ankyrin-B in cardiac and neurological health and disease.Frontiers in cardiovascular medicine · 2022Review
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
It is well established that epilepsy and autism spectrum disorder (ASD) commonly co-occur; however, the underlying biological mechanisms of the co-occurence from their genetic susceptibility are not well understood. Our aim in this study is to characterize genetic modules of subgroups of epilepsy and autism genes that have similar phenotypic manifestations and biological functions. We first integrate a large number of expert-compiled and well-established epilepsy- and ASD-associated genes in a multiplex network, where one layer is connected through protein-protein interaction (PPI) and the other layer through gene-phenotype associations. We identify two modules in the multiplex network, which are significantly enriched in genes associated with both epilepsy and autism as well as genes highly expressed in brain tissues. We find that the first module, which represents the Gene Ontology category of ion transmembrane transport, is more epilepsy-focused, while the second module, representing synaptic signaling, is more ASD-focused. However, because of their enrichment in common genes and association with both epilepsy and ASD phenotypes, these modules point to genetic etiologies and biological processes shared between specific subtypes of epilepsy and ASD. Finally, we use our analysis to prioritize new candidate genes for epilepsy (i.e. ANK2, CACNA1E, CACNA2D3, GRIA2, DLG4) for further validation. The analytical approaches in our study can be applied to similar studies in the future to investigate the genetic connections between different human diseases.
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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 Socratic graph.