ArticleAmerican journal of human genetics2005
Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy.
Article in American journal of human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 100 citations in OpenAlex.
- Coenzyme A is a redox sensing cofactor for malic enzyme 2 regulating oxidative stress and mitochondrial metabolism.bioRxiv : the preprint server for biology · 2026Article
- Aspartate in the Brain: A Review.Neurochemical research · 2025Review
- Upregulation of ACSL, ND75, Vha26 and sesB genes by antiepileptic drugs resulted in genotoxicity in drosophila.Toxicology research · 2024Article
- Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism.Human genomics · 2024Article
- Article
- Suppression of the human malic enzyme 2 modifies energy metabolism and inhibits cellular respiration.Communications biology · 2023Article
- Investigation of Maternal Effects, Maternal-Fetal Interactions, and Parent-of-Origin Effects (Imprinting) for Candidate Genes Positioned on Chromosome 18q21, in Probands with Schizophrenia and their First-Degree Relatives.Psychiatry investigation · 2019Article
- Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes.Neurogenetics · 2018Article
- A Pragmatic Test for Detecting Association between a Dichotomous Trait and the Genotypes of Affected Families, Controls and Independent Cases.Frontiers in genetics · 2017Article
- Novel carboxypeptidase A6 (CPA6) mutations identified in patients with juvenile myoclonic and generalized epilepsy.PloS one · 2015Article
- Commentary: Targeting LDH enzymes with a stiripentol analog to treat epilepsy.Frontiers in cellular neuroscience · 2015Article
- Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2014Review
- A Pilot Study for Discovering Candidate Genes of Chromosome 18q21 in Methamphetamine Abusers: Case-control Association Study.Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology · 2014Article
- Aberrant sodium channel activity in the complex seizure disorder of Celf4 mutant mice.The Journal of physiology · 2013Article
- How should we be searching for genes for common epilepsy? A critique and a prescription.Epilepsia · 2012Review
- Epi4K: gene discovery in 4,000 genomes.Epilepsia · 2012Article
- Revisiting the TCA cycle: signaling to tumor formation.Trends in molecular medicine · 2011Review
- Induction of erythroid differentiation in human erythroleukemia cells by depletion of malic enzyme 2.PloS one · 2010Article
- Seizure control in patients with idiopathic generalized epilepsies: EEG determinants of medication response.Epilepsy & behavior : E&B · 2010Article
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Authors and funding
16 authors at 5 institutions in 1 country.
Funding
Abstract
Idiopathic generalized epilepsy (IGE) is a class of genetically determined, phenotypically related epilepsy syndromes. Linkage analysis identified a chromosome 18 locus predisposing to a number of adolescent-onset IGEs. We report a single-nucleotide polymorphism (SNP) association analysis of the region around the marker locus with the high LOD score. This analysis, which used both case-control and family-based association methods, yielded strong evidence that malic enzyme 2 (ME2) is the gene predisposing to IGE. We also observed association among subgroups of IGE syndromes. An ME2-centered nine-SNP haplotype, when present homozygously, increases the risk for IGE (odds ratio 6.1; 95% confidence interval 2.9-12.7) compared with any other genotype. Both the linkage analysis and the association analysis support recessive inheritance for the locus, which is compatible with the fact that ME2 is an enzyme. ME2 is a genome-coded mitochondrial enzyme that converts malate to pyruvate and is involved in neuronal synthesis of the neurotransmitter gamma-aminobutyric acid (GABA). The results suggest that GABA synthesis disruption predisposes to common IGE and that clinical seizures are triggered when mutations at other genes, or perhaps other insults, are present.
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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.