ReviewGenome medicine2015
Advancing epilepsy genetics in the genomic era.
Review in Genome medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03822741 (Gene Profiling and Individualized Treatment of Neonatal Seizure in China), which is not on this map. Cited by 103 papers, 1 of them a synthesis that pooled 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.
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.
Gene Profiling and Individualized Treatment of Neonatal Seizure in China
Who cites it
103 citing papers in PubMed, 1 synthesis or guideline pooled it, 231 citations in OpenAlex.
- Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies.PloS one · 2017Pooled it
- Exome sequencing of pashtun familial epilepsy in Pakistan reveals novel variants in LAMA5, KCNQ2 and GNAO1.Molecular biology reports · 2026Article
- Genetic risk factor identification for common epilepsies guided by integrative omics data analysis.Epilepsia · 2026Article
- Dysregulated Plasticity in Serotonin, Galanin, and Opioid Systems Contributes to Limbic Seizure Recruitment in Wistar Audiogenic Rat.Journal of neurochemistry · 2026Article
- Review
- Genetic-Epigenetic Interplay in Epilepsy: Pathways, Biomarkers, and Epigenome-Targeted Therapies.Epigenomes · 2026Review
- The genotypic spectrum of complex febrile seizures: insights from high-risk population genetic screening in a pediatric cohort.Frontiers in neuroscience · 2026Article
- Etiologies of patients with adult-onset epilepsy over the past 25 years: a retrospective study in China.BMC neurology · 2025Article
- Diverse species of animal models in epilepsy research: Progress and perspectives.Zoological research · 2025Review
- Genomic insights into autosomal recessive epilepsy: novel pathogenic variants in ITPA and CLN5 identified in consanguineous families.Molecular biology reports · 2025Article
- De Novo HNRNPU Pathogenic Variant Related to Developmental Epileptic Encephalopathy With Inherited KANSL1 Loss-of-Function Variant Resolved by RNA Analysis.Molecular genetics & genomic medicine · 2025Article
- Autism Spectrum Disorder and Epilepsy: Pathogenetic Mechanisms and Therapeutic Implications.Journal of clinical medicine · 2025Review
- Developmental and Epileptic Encephalopathies: Need for Bridging the Gaps Between Clinical Syndromes and Underlying Genetic Etiologies.Indian journal of pediatrics · 2025Review
- GraphTransNet: predicting epilepsy-related genes using a graph-augmented protein language model.Frontiers in pharmacology · 2025Article
- Childhood Idiopathic Epilepsy in Saudi Arabia From 1990-2019: Analysis of the Global Burden of Disease Data, 2019.Cureus · 2024Article
- Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.Clinical genetics · 2024Article
- Somatic variants as a cause of drug-resistant epilepsy including mesial temporal lobe epilepsy with hippocampal sclerosis.Epilepsia · 2024Article
- Clinically significant changes in genes and variants associated with epilepsy over time: implications for re-analysis.Scientific reports · 2024Article
- Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy.Frontiers in genetics · 2024Article
- Non-coding RNAs and neuroinflammation: implications for neurological disorders.Experimental biology and medicine (Maywood, N.J.) · 2024Review
43 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Epilepsy is a group of disorders characterized by recurrent seizures, and is one of the most common neurological conditions. The genetic basis of epilepsy is clear from epidemiological studies and from rare gene discoveries in large families. The three major classes of epilepsy disorders are genetic generalized, focal and encephalopathic epilepsies, with several specific disorders within each class. Advances in genomic technologies that facilitate genome-wide discovery of both common and rare variants have led to a rapid increase in our understanding of epilepsy genetics. Copy number variant and genome-wide association studies have contributed to our understanding of the complex genetic architecture of generalized epilepsy, while genetic insights into the focal epilepsies and epileptic encephalopathies have come primarily from exome sequencing. It is increasingly clear that epilepsy is genetically heterogeneous, and novel gene discoveries have moved the field beyond the known contribution of ion channels to implicate chromatin remodeling, transcriptional regulation and regulation of the mammalian target of rapamycin (mTOR) protein in the etiology of epilepsy. Such discoveries pave the way for new therapeutics, some of which are already being studied. In this review, we discuss the rapid pace of gene discovery in epilepsy, as facilitated by genomic technologies, and highlight several novel genes and potential therapies.
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Registered trials
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.