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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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| Publicado en: | Ann Neurol |
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| Autores principales: | , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2016
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| Materias: | |
| Acceso en línea: | 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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