hyperekplexia type 3
hyperekplexia type 3An autosomal recessive condition characterised by neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life-threatening neonatal apnoeic episodes.
Defects of SLC6A5, which encodes a sodium- and chloride-dependent glycine neurotransmitter transporter, cause hyperekplexia type 3.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.