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Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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ASIC1a polymorphism is associated with temporal lobe epilepsy.

Rui-Juan Lv1, Jin-Sheng He, Yuan-Hui Fu

  • 1Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, PR China.

Epilepsy Research
|June 14, 2011
PubMed
Summary

This study links the acid-sensing ion channel 1a (ASIC1a) gene variant rs844347 to temporal lobe epilepsy (TLE). The findings suggest ASIC1a may contribute to TLE development in the Han Chinese population.

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Area of Science:

  • Neuroscience
  • Genetics
  • Epilepsy Research

Background:

  • Acid-sensing ion channel 1a (ASIC1a) activation increases neuronal excitability in key brain regions.
  • This suggests a potential role for ASIC1a in the development and persistence of epileptic seizures.

Purpose of the Study:

  • To investigate the association between the ASIC1a gene and temporal lobe epilepsy (TLE) for the first time.
  • To explore the genetic link between ASIC1a variants and TLE susceptibility.

Main Methods:

  • Six tag single-nucleotide polymorphisms (SNPs) in the ASIC1a gene were selected.
  • Genotyping was performed using polymerase chain reaction-restriction fragment length polymorphism in 560 TLE patients and 401 healthy controls.

Main Results:

  • A significant allelic and genotypic association was found between the rs844347:A>C polymorphism and TLE.
  • The rs844347-A allele was more frequent in TLE patients (88.1%) than in controls (83.0%), with an odds ratio of 1.516 (p=0.004).
  • Haplotype analysis also revealed a significant association with TLE.

Conclusions:

  • This study provides the first evidence of an association between an ASIC1a gene variant and TLE.
  • The findings suggest that ASIC1a may be a genetic factor contributing to TLE in the Han Chinese population.