Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health
Reference29 articles.
1. Hyperekplexia and other startle syndromes;Saini;J Neurol Sci,2020
2. Not every excessive startle is hyperekplexia, the curious case of SOD1;Van Der Veen;Brain,2020
3. Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay;Thomas;Brain,2013
4. Clinical and genetic investigation of 17 Japanese patients with hyperekplexia;Mine;Dev Med Child Neurol,2015
5. Hyperekplexia: a Chinese adolescent with 2 novel mutations of the GLRA1 gene;Chan;J Child Neurol,2014
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1. Hyperekplexia: A Single-Center Experience;Journal of Child Neurology;2024-06
2. Case 14-2024: A 30-Year-Old Woman with Back Pain, Leg Stiffness, and Falls;New England Journal of Medicine;2024-05-09
3. Generalized Stiffness in Hereditary Hyperekplexia Responsive to Trihexyphenidyl: A Novel Finding;Clinical Pediatrics;2023-10-29
4. Four Turkish families with hyperekplexia: A missense mutation and the exon 1–7 deletion in the GLRA1 gene;Parkinsonism & Related Disorders;2022-12
5. Multiple drugs;Reactions Weekly;2022-07
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