Hyperekplexia, Apneas, Developmental Delay, and Genetic Correlations

J Gordon Millichap

doi:10.15844/pedneurbriefs-27-11-7

Hyperekplexia, Apneas, Developmental Delay, and Genetic Correlations

Pediatric Neurology Briefs

Volume 27 (2013): Issue 11

By: J Gordon Millichap

Open Access

|Nov 2013

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.

References

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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-27-11-7 | Journal eISSN: 2166-6482

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Language: English

Page range: 86 - 87

Published on: Nov 1, 2013

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Genotype-Phenotype Correlations,

Hyperekplexia,

Recurrent Infantile Apneas

© 2013 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 27 (2013): Issue 11