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EPILEPTIC ENCEPHALOPATHY DE NOVO GABRB MUTATIONS IMPAIR GABA(A) RECEPTOR FUNCTION

OBJECTIVE: The Epi4K consortium recently identified four de novo mutations in the γ-aminobutyric acid type A (GABA(A)) receptor β3 subunit gene GABRB3 and one in the β1 subunit gene GABRB1 in children with epileptic encephalopathies (EEs) Lennox-Gastaut syndrome (LGS) or infantile spasms (IS). Since...

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Detalles Bibliográficos
Publicado en:Ann Neurol
Main Authors: Janve, Vaishali S., Hernandez, Ciria C., Verdier, Kelienne M., Hu, Ningning, Macdonald, Robert L.
Formato: Artigo
Idioma:Inglês
Publicado: 2016
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5014730/
https://ncbi.nlm.nih.gov/pubmed/26950270
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.24631
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