Article
Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.
American journal of human genetics - 1 Jun 2008
Tanaka Miyabi, Olsen Richard W, Medina Marco T, Schwartz Emily, Alonso Maria Elisa, Duron Reyna M, Castro-Ortega Ramon, Martinez-Juarez Iris E, Pascual-Castroviejo Ignacio, Machado-Salas Jesus, Silva Rene, Bailey Julia N, Bai Dongsheng, Ochoa Adriana, Jara-Prado Aurelio, Pineda Gregorio, Macdonald Robert L, Delgado-Escueta Antonio V
Abstract excerpt
Childhood absence epilepsy (CAE) accounts for 10% to 12% of epilepsy in children under 16 years of age. We screened for mutations in the GABA(A) receptor (GABAR) beta 3 subunit gene (GABRB3) in 48 probands and families with remitting CAE. We found that four out of 48 families (8%) had mutations in GABRB3. One heterozygous missense mutation (P11S) in exon 1a segregated with four CAE-affected persons in one...
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