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GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy
The gamma‐aminobutyric acid type A receptor β3 gene (GABRB3) encodes the β3‐subunit of the gamma‐aminobutyric acid type A (GABA(A)) receptor, which mediates inhibitory signalling within the central nervous system. Recently, GABRB3 mutations have been identified in a few patients with infantile spasm...
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| Publicado no: | Dev Med Child Neurol |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4864756/ https://ncbi.nlm.nih.gov/pubmed/26645412 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/dmcn.12976 |
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