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

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) β3 subunit gene (GABRB3) in 48 probands and families with remitting CAE. We found that four out of 48 families (8%) had mutations in GABRB...

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Detalhes bibliográficos
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Human Genetics 2008
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2427288/
https://ncbi.nlm.nih.gov/pubmed/18514161
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.04.020
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