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Hyperexplexia

Known as: Hyperekplexias, startle disease, startle syndrome 
A neurological disorder characterized by an excessive startle reaction with ABNORMAL REFLEX; MYOCLONIC JERKS; and MUSCLE HYPERTONIA.
National Institutes of Health

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ASPARAGINE SYNTHETASE DEFICIENCYIn BloodJumping Frenchmen of MaineMicrobiological

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
Constitutive Endocytosis and Turnover of the Neuronal Glycine Transporter GlyT2 Is Dependent on Ubiquitination of a C-Terminal Lysine Cluster
Inhibitory glycinergic neurotransmission is terminated by sodium and chloride-dependent plasma membrane glycine transporters… 
2013
2013
First trial and StartReact effects induced by balance perturbations to upright stance.
Postural responses (PR) to a balance perturbation differ between the first and subsequent perturbations. One explanation for this… 
2012
2012
Effects of distinct collybistin isoforms on the formation of GABAergic synapses in hippocampal neurons
Review
2011
Review
2011
Milestones in clinical neurophysiology
Over the last 25 years, clinical neurophysiology has made many advances in the understanding, diagnosis, and even treatment of… 
2005
2005
Molybdenum Cofactor Deficiency Presenting as Neonatal Hyperekplexia: A Clinical, Biochemical and Genetic Study
GLRA1 S GPH MOCS1 GLRA1 
Highly Cited
2004
Highly Cited
2004
A Novel Hyperekplexia-causing Mutation in the Pre-transmembrane Segment 1 of the Human Glycine Receptor α1 Subunit Reduces Membrane Expression and Impairs Gating by Agonists*
In this study, we have compared the functional consequences of three mutations (R218Q, V260M, and Q266H) in the α1 subunit of the… 
2001
2001
Opposing Effects of Molecular Volume and Charge at the Hyperekplexia Site α1(P250) Govern Glycine Receptor Activation and Desensitization*
Allelic variants of the glycine receptor α1 subunit gene GLRA1 underlie the human neurological disorder hyperekplexia. Among… 
1998
1998
Hyperekplexia and trismus due to brainstem encephalopathy
The brainstem is said to be the generator of pathological startle responses due to reticular reflex myoclonus or hyperekplexia. A… 
1997
1997
Symptomatic hyperekplexia occurring as a result of pontine infarction
Panenky [Bobble head doll syndrome]. Cs Neurol Neurochir 1977; 40:25 1-256. 16. Kirkham TH. Optic atrophy in the bobble head doll… 
1992
1992
Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease
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