A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.

ABSTRACT:

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 214 patients with epileptic seizures using a gene panel with 109 genes that are known or suspected to cause epileptic seizures. Functional assessments were demonstrated by using electrophysiological experiments and immunostaining for mutant γ-aminobutyric acid-A (GABA_A) receptor subunits in HEK293T cells.

Results

We discovered a de novo hetero

SUBMITTER: Ishii A 

PROVIDER: S-EPMC5384423 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature