Hyperekplexia, Apneas, Developmental Delay, and Genetic Correlations
DOI:
https://doi.org/10.15844/pedneurbriefs-27-11-7Keywords:
Genotype-Phenotype Correlations, Hyperekplexia, Recurrent Infantile ApneasAbstract
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.Published
2013-11-01
Issue
Section
Movement Disorders
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