Hyperekplexia is a neurological disorder characterized by an exaggerated startle response with generalized stiffening and frequent falls. Generalized stiffness is present at birth. The disorder is hereditary and mutations in at least five genes have been described to date. Most often, mutations are found in the GLRA1 gene, encoding the alpha 1 subunit of the glycine receptor, and less frequently in the glycine transporter type 2 gene (GLYT2) (20% of cases), or the glycine receptor beta (GLRB) gene. The involved genes encode subunits of glycine receptors, which are ligand-gated chloride channels with an inhibitory function in brainstem and spinal cord [
]. The glycine receptors are highly expressed in certain brainstem nuclei and diffusely in the grey matter of the spinal cord, also involving sensory pathways [
- Dreissen Y.E.M.
- Tijssen M.A.J.
The startle syndromes: physiology and treatment.
Epilepsia. 2012; 53: 3-11
- Lynch J.W.
Molecular structure and function of the glycine receptor chloride channel.
Physiol. Rev. 2004; 84: 1051-1095
- Takazawa T.
- MacDermott A.M.
Synaptic pathways and inhibitory gates in the spinal cord dorsal horn.
Ann. N. Y. Acad. Sci. 2010 June; 1198: 153-158
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- The startle syndromes: physiology and treatment.Epilepsia. 2012; 53: 3-11
- Molecular structure and function of the glycine receptor chloride channel.Physiol. Rev. 2004; 84: 1051-1095
- Synaptic pathways and inhibitory gates in the spinal cord dorsal horn.Ann. N. Y. Acad. Sci. 2010 June; 1198: 153-158
- Mutations in the glycine receptor α1 subunit (GLRA1) gene in hereditary hyperexkplexia pedigrees: evidence for non-penetrance of mutation Y279C.JMG. 2001; 38: e17
- Glycin inhibitory dysfunction induces a selectively dynamic, morphine-resistant, and neurokinin 1 receptor independent mechanical allodynia.Neurobiol. Dis. 2009; 29: 2519-2527
- Hyperalgesia induced by altered glycinergic activity at the spinal cord.Life Sci. 1985; 37: 875-882
- Hyperekplexia.in: Pagon R.A. Adam M.P. Ardinger H.H. Wallace S.E. Amemiya A. LJH Bean Bird T.D. Fong C.T. Mefford H.C. RJH Smith Stephens K. GeneReviews®. University of Washington, Seattle, Seattle (WA)1993–2016 ([Internet]. 2007 Jul 31 [updated 2012 Oct 04])
Published online: May 11, 2017
Accepted: May 10, 2017
Received in revised form: May 9, 2017
Received: February 28, 2017
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