Published 2013 | Version v1.0.0
Journal Article Open
Hyperekplexia, Apneas, Developmental Delay, and Genetic Correlations
Investigators at Swansea University and other centers in the UK, Australia, and Belgium studied the genotype-phenotype correlations in 97 individuals with a clinical diagnosis of hyperekplexia; 61 cases had mutations in GLRA1, 24 cases in SLC6A5 and 12 in GLRB.
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2013When the item was originally created.