 Individuals suffering from Progressive Myoclonus Epilepsy possess a mutated form of this gene, which results in decreased output of mature mRNA, and subsequently decreases in protein expression.A study has also shown that a type of Childhood Absence Epilepsy (CAE) causing febrile seizures may be linked to a splice site mutation in the sixth intron of the GABRG2 gene.This splice site mutation was found to cause a nonfunctional GABRG2 subunit in affected individuals.