A missense mutation of causes early myoclonic encephalopathy.

Ishii A, Kang JQ, Schornak CC, Hernandez CC, Shen W, Watkins JC, Macdonald RL, Hirose S. A missense mutation of causes early myoclonic encephalopathy. Journal of medical genetics. 2017 Mar;54(54). 202-211. PMID: 27789573 [PubMed] PMCID: PMC5384423

Abstract

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.