Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation.

Tian M, Mei D, Freri E, Hernandez CC, Granata T, Shen W, Macdonald RL, Guerrini R
Neurobiol Dis. 2013 50: 135-41

PMID: 23069679 · PMCID: PMC3762699 · DOI:10.1016/j.nbd.2012.10.008

MeSH Terms (22)

Adult Aged Amino Acid Sequence Child Child, Preschool Electroencephalography Epilepsies, Myoclonic Female Flow Cytometry Frameshift Mutation Genotype Humans Immunoblotting Immunohistochemistry Male Microscopy, Confocal Middle Aged Molecular Sequence Data Patch-Clamp Techniques Pedigree Phenotype Receptors, GABA-A

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