Journal article 508 views
Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia
SK Chung,
JF Vanbellinghen,
JGL Mullins,
Rhys Thomas
J Neuroscience, Pages: 9612 - 20
Swansea University Author: Rhys Thomas
Abstract
Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia
| Published in: | J Neuroscience |
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| Published: |
J Neuroscience
2010
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| URI: | https://cronfa.swan.ac.uk/Record/cronfa9989 |
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| Item Description: |
Rhys is the sole internal clinician for this paper which produced some genotype-phenotype correlations.The electrophysiological and modelling conclusions are only valid in the context of robust phenotypic evaluation. |
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| College: |
Faculty of Medicine, Health and Life Sciences |
| Start Page: |
9612 |
| End Page: |
20 |