Mutations in GABAA receptor subunits associated with genetic epilepsies.

Macdonald RL, Kang JQ, Gallagher MJ
J Physiol. 2010 588 (Pt 11): 1861-9

PMID: 20308251 · PMCID: PMC2901974 · DOI:10.1113/jphysiol.2010.186999

Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic epilepsy syndromes including childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME), pure febrile seizures (FS), generalized epilepsy with febrile seizures plus (GEFS+), and Dravet syndrome (DS)/severe myoclonic epilepsy in infancy (SMEI). These mutations are found in both translated and untranslated gene regions and have been shown to affect the GABAA receptors by altering receptor function and/or by impairing receptor biogenesis by multiple mechanisms including reducing subunit mRNA transcription or stability, impairing subunit folding, stability, or oligomerization and by inhibiting receptor trafficking.

MeSH Terms (7)

Animals Epilepsy Frameshift Mutation Humans Mutation Mutation, Missense Receptors, GABA-A

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