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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Bibliografiske detaljer
Udgivet i:Dev Med Child Neurol
Main Authors: Papandreou, Apostolos, McTague, Amy, Trump, Natalie, Ambegaonkar, Gautam, Ngoh, Adeline, Meyer, Esther, Scott, Richard H, Kurian, Manju A
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2015
Fag:
Case Report
Online adgang: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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