Hyperglycosylation and Reduced GABA Currents of Mutated GABRB3 Polypeptide in Remitting Childhood Absence Epilepsy

Miyabi TanakaRichard W. OlsenMarco T. MedinaE SchwartzMaría Elisa AlonsoReyna M. DurónRamon Castro-OrtegaIris E. Martínez‐JuárezI Pascual-CastroviejoJesús Machado‐Salas2026-03-222026-03-22200810.1016/j.ajhg.2008.04.020https://doi.org/10.1016/j.ajhg.2008.04.020https://andeanlibrary.org/handle/123456789/43169Citaciones: 192enMissense mutationMutationExonCompound heterozygosityMolecular biologyGeneticsBiologyEpilepsyProbandChildhood absence epilepsyHyperglycosylation and Reduced GABA Currents of Mutated GABRB3 Polypeptide in Remitting Childhood Absence Epilepsyarticle