Teaching Video NeuroImage: Hereditary Hyperekplexia Mimicking Tonic Seizures in an Infant.
Derek G NeupertKevin M RathkeMohamad A MikatiPublished in: Neurology (2021)
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.
Keyphrases
- copy number
- high glucose
- diabetic rats
- skeletal muscle
- early onset
- genome wide
- functional connectivity
- intellectual disability
- working memory
- resting state
- randomized controlled trial
- drug induced
- case report
- temporal lobe epilepsy
- medical students
- endothelial cells
- oxidative stress
- dna methylation
- placebo controlled