Article
Gamma-aminobutyric acid GABRA4, GABRE, and GABRQ receptor polymorphisms and risk for essential tremor.
Pharmacogenetics and genomics - 1 Jul 2011
García-Martín Elena, Martínez Carmen, Alonso-Navarro Hortensia, Benito-León Julián, Lorenzo-Betancor Oswaldo, Pastor Pau, Puertas Inmaculada, Rubio Lluisa, López-Alburquerque Tomás, Agúndez José A G, Jiménez-Jiménez Félix Javier
Abstract excerpt
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...
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