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Article

A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy

27 Oct 2016

Abstract excerpt

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 a pathogenic mutation of an ion channel as a cause of EME for the first time. Methods Sequencing was performed for...

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PMID: 27789573
DOI: 10.1136/jmedgenet-2016-104083

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