Clinical and Neurophysiologic Phenotypes in Neonates With <i>BRAT1</i> Encephalopathy

Abstract

<i>BRAT1</i> encephalopathy is a neonatal-onset, rapidly progressive neurologic disorder. Neonates are often misdiagnosed as having hyperekplexia, and many die undiagnosed. The key phenotypic features are multifocal myoclonus, an organized EEG, progressive, persistent, and diffuse hypertonia, and an evolution into refractory multifocal seizures, prolonged bouts of apnea, bradycardia, and early death. Early recognition of <i>BRAT1</i> encephalopathy allows for prompt workup, appropriate management, and genetic counseling.