Varaico: Literature-Extracted Genetic Variants

Gene:GLRA1
Variant:p.R299*
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GLRA1

NM_000171.4:p.R299*

Associated Papers

Neonatal Hyperekplexia: Is It Still a Diagnostic Challenge? Evidence From a Systematic Review.

Falsaperla R et al.

Journal of Child Neurology, 2024

Excessive Startle with Novel GLRA1 Mutations in 4 Chinese Patients and a Literature Review of GLRA1-Related Hyperekplexia.

Zhan F et al.

Journal of Clinical Neurology (seoul, Korea), 2020

Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report.

Sprovieri T et al.

Bmc Medical Genetics, 2019

Familial Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes

Lee Y et al.

Journal of Movement Disorders, 2017

Clinical features and genetic analysis of children with hyperekplexia in Korea.

Lee CG et al.

Journal of Child Neurology, 2013

Clinical and genetic analysis of three Korean children with pyridoxine-dependent epilepsy.

Nam SH et al.

Annals of Clinical and Laboratory Science, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."