Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.

ABSTRACT:

Objective

We sought to identify genetic causes of early onset epileptic encephalopathies with burst suppression (Ohtahara syndrome and early myoclonic encephalopathy) and evaluate genotype-phenotype correlations.

Methods

We enrolled 33 patients with a referral diagnosis of Ohtahara syndrome or early myoclonic encephalopathy without malformations of cortical development. We performed detailed phenotypic assessment including seizure presentation, electroencephalography, and magnetic resonance imaging. We confirmed burst suppression in 28 of 33 patients. Research-based exome sequencing was performed for patients without a previously identified molecular diagnosis from clinical evaluation or a research-based epilepsy gene panel.

Results

In 17 of 28 (61%) patients with con

SUBMITTER: Olson HE 

PROVIDER: S-EPMC5366084 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature