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Mutations in GABA A receptor subunits associated with genetic epilepsies

2010; Wiley; Volume: 588; Issue: 11 Linguagem: Inglês

10.1113/jphysiol.2010.186999

1469-7793

Robert L. Macdonald, Jing‐Qiong Kang, Martin J. Gallagher,

RNA and protein synthesis mechanisms

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.