Objective: The SYN2 rs3773364 A>G polymorphism has been proposed to be involved in susceptibility to epilepsy, but research results have been inconclusive. The aim of this study was to investigate the association between the SYN2 rs3773364 A>G polymorphism and susceptibility against epilepsy in a case-control study and a meta-analysis.
Methods: The SYN2 rs3773364 A>G polymorphism was successfully genotyped in 1182 samples (618 epilepsy patients) of Chinese, Indian, and Malay ethnicities. Meta-analysis of the related studies, including this case-control study, was performed under alternative genetic models.
Results: Data from the case-control study indicated no allelic and genotypic association of this locus with susceptibility to epilepsy in the tri-ethnic Malaysian population. Similar finding was obtained by stratified analysis by epilepsy syndrome for idiopathic epilepsy. These results were verified by meta-analysis of the related pooled data.
Conclusions: Our study indicated that SYN2 rs3773364 A>G polymorphism is not a risk factor for susceptibility to epilepsy.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/syn.20939 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Quantitative susceptibility mapping of iron deposition in sporadic cerebral cavernous malformation-related epilepsy.
Epilepsia
January 2025
Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Objective: To evaluate iron deposition patterns in patients with cerebral cavernous malformation-related epilepsy (CRE) using quantitative susceptibility mapping (QSM) for detailed analysis of iron distribution associated with a history of epilepsy and severity.
Methods: This study is part of the Quantitative Susceptibility Biomarker and Brain Structural Property for Cerebral Cavernous Malformation Related Epilepsy (CRESS) cohort, a prospective multicenter study. QSM was used to quantify iron deposition in patients with sporadic cerebral cavernous malformation (CCMs).
Novel Variants Related to a Variable Phenotypic Spectrum Ranging from Epilepsy with Auditory Features to Severe Developmental and Epileptic Encephalopathies.
Int J Mol Sci
December 2024
Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, 88100 Catanzaro, Italy.
Pathogenic variants are associated with neonatal epilepsies, ranging from self-limited neonatal epilepsy to -developmental and epileptic encephalopathy (DEE). In this study, next-generation sequencing was performed, applying a panel of 142 epilepsy genes on three unrelated individuals and affected family members, showing a wide variability in the epileptic spectrum. The genetic analysis revealed two likely pathogenic missense variants (c.
View Article and Find Full Text PDFExploring the association between familial hemiplegic migraine genes (, and ) with migraine and epilepsy: A UK Biobank exome-wide association study.
Cephalalgia
January 2025
Department of Biomedicine, Health Aarhus University, Aarhus, Denmark.
Background: Familial hemiplegic migraine (FHM) types 1-3 are associated with protein-altering genetic variants in , and , respectively. These genes have also been linked to epilepsy. Previous studies primarily focused on phenotypes, examining genetic variants in individuals with characteristic FHM symptoms.
View Article and Find Full Text PDFSex-specific differences in mortality and neurocardiac interactions in the Kv1.1 knockout mouse model of sudden unexpected death in epilepsy (SUDEP).
J Physiol
January 2025
Department of Biological Sciences, Southern Methodist University, Dallas, TX, USA.
Sudden unexpected death in epilepsy (SUDEP) is a devastating complication of epilepsy with possible sex-specific risk factors, although the exact relationship between sex and SUDEP remains unclear. To investigate this, we studied Kcna1 knockout (Kcna1) mice, which lack voltage-gated Kv1.1 channel subunits and are widely used as a SUDEP model that mirrors key features in humans.
View Article and Find Full Text PDFInterneuron FGF13 regulates seizure susceptibility via a sodium channel-independent mechanism.
Elife
January 2025
Cardiovascular Research Institute, Weill Cornell Medicine, New York City, United States.
Developmental and epileptic encephalopathies (DEEs), a class of devastating neurological disorders characterized by recurrent seizures and exacerbated by disruptions to excitatory/inhibitory balance in the brain, are commonly caused by mutations in ion channels. Disruption of, or variants in, were implicated as causal for a set of DEEs, but the underlying mechanisms were clouded because is expressed in both excitatory and inhibitory neurons, undergoes extensive alternative splicing producing multiple isoforms with distinct functions, and the overall roles of FGF13 in neurons are incompletely cataloged. To overcome these challenges, we generated a set of novel cell-type-specific conditional knockout mice.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!