TY  - GEN
AU  - Tanaka,Miyabi
AU  - Olsen,Richard W
AU  - Medina,Marco T
AU  - Schwartz,Emily
AU  - Alonso,Maria Elisa
AU  - Duron,Reyna M
AU  - Castro-Ortega,Ramon
AU  - Martinez-Juarez,Iris E
AU  - Pascual-Castroviejo,Ignacio
AU  - Machado-Salas,Jesus
AU  - Silva,Rene
AU  - Bailey,Julia N
AU  - Bai,Dongsheng
AU  - Ochoa,Adriana
AU  - Jara-Prado,Aurelio
AU  - Pineda,Gregorio
AU  - Macdonald,Robert L
AU  - Delgado-Escueta,Antonio V
TI  - Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy
SN  - 1537-6605
PY  - 2008///0627
KW  - Amino Acid Sequence
KW  - Cell Line
KW  - Child
KW  - Child, Preschool
KW  - DNA Mutational Analysis
KW  - DNA, Complementary
KW  - genetics
KW  - Electroencephalography
KW  - Epilepsy, Absence
KW  - Female
KW  - Genetic Linkage
KW  - Genotype
KW  - Glycosylation
KW  - Humans
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation, Missense
KW  - Pedigree
KW  - Phenotype
KW  - Receptors, GABA-A
KW  - chemistry
KW  - Sequence Homology, Amino Acid
KW  - Transfection
KW  - gamma-Aminobutyric Acid
KW  - metabolism
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S
UR  - https://doi.org/10.1016/j.ajhg.2008.04.020
ER  -