GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy

@inproceedings{Papandreou2016GABRB3M,
  title={
GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy},
  author={Apostolos Papandreou and Amy Mctague and Natalie Trump and Gautam Ambegaonkar and Adeline Ngoh and E J Meyer and Richard H. Scott and Manju A. Kurian},
  booktitle={Developmental medicine and child neurology},
  year={2016}
}
The gamma-aminobutyric acid type A receptor β3 gene (GABRB3) encodes the β3-subunit of the gamma-aminobutyric acid type A (GABAA ) receptor, which mediates inhibitory signalling within the central nervous system. Recently, GABRB3 mutations have been identified in a few patients with infantile spasms and Lennox-Gastaut syndrome. We report the clinical and electrographic features of a novel case of GABRB3-related early-onset epileptic encephalopathy. Our patient presented with neonatal hypotonia… CONTINUE READING

Citations

Publications citing this paper.
SHOWING 1-10 OF 17 CITATIONS

A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder.

  • European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
  • 2017
VIEW 1 EXCERPT
CITES METHODS

References

Publications referenced by this paper.
SHOWING 1-10 OF 17 REFERENCES