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Updated: Mar 23, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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A GABBR2 gene variant modifies pathophysiology in Huntington's disease

April L Philpott1, Paul B Fitzgerald2, Neil W Bailey2

  • 1School of Psychological Sciences and Monash Institute of Cognitive and Clinical Neurosciences, Monash University, Clayton, VIC 3800, Australia.

Neuroscience Letters
|April 2, 2016
PubMed
Summary

Genetic variations in GABBR2, a gene influencing brain pathways, are linked to altered corticospinal excitability in Huntington's disease (HD). This finding may help develop biomarkers for HD diagnosis and prognosis.

Keywords:
Age at onsetCortical excitabilityDopamineGABASingle-nucleotide polymorphismTranscranial magnetic stimulation

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