Teaching Video NeuroImage: Hereditary Hyperekplexia Mimicking Tonic Seizures in an Infant.

Journal Article (Journal Article)

Hereditary hyperekplexia is a rare neurologic disorder characterized by an exaggerated startle response with profound muscle stiffness.1,2 Given the nature of the spells, this condition is often misdiagnosed as epilepsy. Mutations in glycine receptors and transporters are the primary cause of this syndrome.1 We present an example of stimulus-induced hyperekplexia captured on video EEG in a 7-week-old girl with compound heterozygous variants in the presynaptic glycine transporter gene SLC6A5.

Full Text

Duke Authors

Cited Authors

  • Neupert, DG; Rathke, KM; Mikati, MA

Published Date

  • November 30, 2021

Published In

Volume / Issue

  • 97 / 22

Start / End Page

  • e2248 - e2249

PubMed ID

  • 34266921

Electronic International Standard Serial Number (EISSN)

  • 1526-632X

Digital Object Identifier (DOI)

  • 10.1212/WNL.0000000000012538

Language

  • eng

Conference Location

  • United States