Gamma-aminobutyric acid GABRA4, GABRE, and GABRQ receptor polymorphisms and risk for essential tremor.

@article{GarciaMartin2011GammaaminobutyricAG,
  title={Gamma-aminobutyric acid GABRA4, GABRE, and GABRQ receptor polymorphisms and risk for essential tremor.},
  author={Elena Garcia-Martin and Carmen Mart{\'i}nez and Hortensia Alonso-Navarro and Juli{\'a}n Benito-Le{\'o}n and Oswaldo Lorenzo-Betancor and Pau Pastor and Inmaculada Puertas and Lluisa Rubio and Tom{\'a}s L{\'o}pez-Alburquerque and Jos{\'e} Augusto G Ag{\'u}ndez and F{\'e}lix Javier Jim{\'e}nez-Jim{\'e}nez},
  journal={Pharmacogenetics and genomics},
  year={2011},
  volume={21 7},
  pages={436-9}
}
Some clinical and experimental data suggest a possible role of γ-aminobutyrate (GABA)-ergic mechanisms in the pathophysiology of essential tremor (ET). We studied the allelic and genotype frequencies of the single nucleotide polymorphisms, such as GABRA4-L26M (Leu26Met, rs2229940), GABRE-S102A (Ser26Ala, rs1139916), and GABRQ-I478F (Ile26Phe, rs3810651), in 200 patients with familial ET and 250 healthy controls using TaqMan genotyping. GABRA4-L26M, GABRE-S102A, and GABRQ-I478F genotype and… CONTINUE READING
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