we report the discovery of a de novo heterozygous missense mutation in the GABRB2 gene that encodes the b2 subunit of the GABAA receptor. Our in vitro studies indicate that this mutation causes Early myoclonic encephalopathy via disruption of GABAergic inhibition in the brain
Our findings underscore the need for further investigation into the mechanisms by which mutations in GABRB2 contribute to neurological and developmental dysfunction.
findings highlight the importance of GABRB2 in neuropsychiatric disease aetiology with respect to haplotype association as well as reduction of and temporal effects on gene expression in both schizophrenia and bipolar disorder
Alternative-splicing in the exon-10 region of GABA(A) receptor beta(2) subunit gene may have a role in psychotic disorders; Observational study of gene-disease association. (HuGE Navigator)
Electrophysiological analysis showed that this long beta(2) isoform favored by the positive selections is more sensitive than the short isoform to the inhibition of GABA(A) receptor function by energy depletion
Not Associated with PSYCH: schizophrenia., Observational study of gene-disease association. (HuGE Navigator); Results do not support the hypothesis that genetic variation at the GABRB2 locus plays a major role in schizophrenic patients of european descent.
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