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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Med Genet
Prif Awduron: Ishii, Atsushi, Kang, Jing-Qiong, Schornak, Cara C, Hernandez, Ciria C, Shen, Wangzhen, Watkins, Joseph C, Macdonald, Robert L, Hirose, Shinichi
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Publishing Group 2017
Pynciau:
Screening
Mynediad Ar-lein: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
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg