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May 1, 1996Journal of Medical GeneticsOpen Access

Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis.

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Authors

FEFrances ElmslieEpsom and St Helier University Hospitals NHS TrustSHSarah HutchingsDurham UniversityVSV. SpencerUniversity College London

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Elmslie et al. (1996) studied this question.

synapsesocial.com/papers/6a9d7b79f54e3ef35f67ec2dhttps://doi.org/10.1136/jmg.33.5.435
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Co‐dominant Inheritance of Hyperekplexia and Spastic Paraparesis1996 · 11 citations
  2. 2Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p1994 · 146 citations
  3. 3Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers1994 · 110 citations
  4. 4An additional family with Startle disease and a G1192A mutation at the α1 subunit of the inhibitory glycine receptor gene1994 · 23 citations
  5. 5Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the α1 subunit of the inhibitory glycine receptor1994 · 141 citations