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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Detalles Bibliográficos
Autores principales: Papandreou, Apostolos, McTague, Amy, Trump, Natalie, Ambegaonkar, Gautam, Ngoh, Adeline, Meyer, Esther, Scott, Richard H, Kurian, Manju A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864756/
https://www.ncbi.nlm.nih.gov/pubmed/26645412
http://dx.doi.org/10.1111/dmcn.12976

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864756/
https://www.ncbi.nlm.nih.gov/pubmed/26645412
http://dx.doi.org/10.1111/dmcn.12976

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