... in neuromuscular dysfunction, with each nfu-1 variant resulting in distinct neuromuscular defects ( Fig. 7 ). Both Gly147Arg and Gly166Cys are hypersensitive to the ACh agonists aldicarb and levamisole and resistant to the GABA agonist piperazine. However, they have opposite motility phenotypes: Gly147Arg...

.... Mutations in genes involved in gamma-aminobutyric acid (GABA)-mediated inhibitory neurotransmission have been associated with a broad range of epilepsy syndromes. Mutations in the GABA-A receptor gamma 2 subunit gene ( GABRG2 ), for example, have been associated with absence epilepsy and febrile seizures...