hyperekplexia type 3

hyperekplexia type 3

An autosomal recessive condition characterised by neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life-threatening neonatal apnoeic episodes.  

Molecular pathology
Defects of SLC6A5, which encodes a sodium- and chloride-dependent glycine neurotransmitter transporter, cause hyperekplexia type 3.