Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.

doi:10.1523/JNEUROSCI.1763-10.2010

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Article

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 14 Jul 2010

Chung Seo-Kyung, Vanbellinghen Jean-François, Mullins Jonathan G L, Robinson Angela, Hantke Janina, Hammond Carrie L, Gilbert Daniel F, Freilinger Michael, Ryan Monique, Kruer Michael C, Masri Amira, Gurses Candan, Ferrie Colin, Harvey Kirsten, Shiang Rita, Christodoulou John, Andermann Frederick, Andermann Eva, Thomas Rhys H, Harvey Robert J, Lynch Joseph W, Rees Mark I

Abstract excerpt

Hyperekplexia is a rare, but potentially fatal, neuromotor disorder characterized by exaggerated startle reflexes and hypertonia in response to sudden, unexpected auditory or tactile stimuli. This disorder is primarily caused by inherited mutations in the genes encoding the glycine receptor (GlyR) alpha1 subunit (GLRA1) and the presynaptic glycine transporter GlyT2 (SLC6A5). In this study, systematic DNA...

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Identifiers

PMID: 20631190
DOI: 10.1523/JNEUROSCI.1763-10.2010
PMCID: PMC6632444

Genes

GLRA1

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