Hyperekplexia, Apneas, Developmental Delay, and Genetic Correlations

Abstract

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.

Keywords

• genotype-phenotype correlations
• hyperekplexia
• recurrent infantile apneas