A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy

BACKGROUND: Early myoclonic encephalopathy (EME), a disease with a devastating prognosis, is characterised by neonatal onset of seizures and massive myoclonus accompanied by a continuous suppression-burst EEG pattern. Three genes are associated with EMEs that have metabolic features. Here, we report...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Ishii, Atsushi, Kang, Jing-Qiong, Schornak, Cara C, Hernandez, Ciria C, Shen, Wangzhen, Watkins, Joseph C, Macdonald, Robert L, Hirose, Shinichi
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2017
Assuntos:
Screening
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5384423/
https://ncbi.nlm.nih.gov/pubmed/27789573
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2016-104083
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