Hyperekplexia

OMIM describes hyperekplexia as an early-onset neurologic disorder characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli, defining at least three types as follows:

• Type 1: caused by dominant or recessive mutations in the GLRA1 gene
• Type 2: caused by recessively inherited mutations in the GLRB gene
• Type 3: caused by dominant or recessive mutations in the SLC6A5 gene