hyperekplexia 2

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hyperekplexia 22016-11-26T04:26:17+00:00

hyperekplexia 2

NEUROLOGY

Definition A neurologic disorder (OMIM:614619) characterised by muscular rigidity of CNS origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli.

Molecular pathology Defects of GLRB, which encodes a subunit of the glycine receptor that functions as a neurotransmitter-gated ion channel, cause hyperekplexia 2. 

References http://www.uniprot.org/uniprot/P48167

http://www.omim.org/entry/614619 

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