Compound heterozygosity and nonsense mutations in the α1-subunit of the inhibitory glycine receptor in hyperekplexia

No abstract is available for this paper.

• Publication year

  2001

• Venue

  Human Genetics

• Publication date

  2001-08-02

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/s004390100569PMID 11702206
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3).

  2000cited by this paper
• Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3)

  2000cited by this paper
• Identification of a New Ligand Binding Domain in the α1 Subunit of the Inhibitory Glycine Receptor

  1999cited by this paper
• Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations

  1999influential reference
• Identification of intracellular and extracellular domains mediating signal transduction in the inhibitory glycine receptor chloride channel

  1997cited by this paper
• A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors.

  1996cited by this paper
• Mutational analysis of familial and sporadic hyperekplexia

  1995influential reference
• Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor.

  1994cited by this paper
• A frameshift mutation in the mouse alpha 1 glycine receptor gene (Glra1) results in progressive neurological symptoms and juvenile death.

  1994cited by this paper
• Familial rectal pain: A type of reflex epilepsy?

  1992cited by this paper
• The inhibitory glycine receptor: a ligand-gated chloride channel of the central nervous system.

  1990cited by this paper
• Hyperekplexia: A syndrome of pathological startle responeses

  1984cited by this paper

• Fluorescence-based method for analysis of glycine receptor alpha 3 agonists.

  2025cites this paper
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  2024cites this paper
• The mRNA expression profile of glycine receptor subunits alpha 1, alpha 2, alpha 4 and beta in female and male mice.

  2024cites this paper
• Ligand-gated ion channels in genetic disorders and the question of efficacy.

  2020cites this paper
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  2019cites this paper
• Variable colocalisation of GABAA receptor subunits and glycine receptors on neurons in the human hypoglossal nucleus.

  2019cites this paper
• Novel mutations in SLC6A5 with benign course in hyperekplexia

  2019cites this paper
• Antiglycine receptor antibody related disease: a case series and literature review

  2018cites this paper
• Exploring the structure function relation of the glycine receptor with hyperekplexia mutations

  2018cites this paper
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  2018cites this paper
• Impaired Glycine Receptor Trafficking in Neurological Diseases

  2018cites this paper
• The Intracellular Loop of the Glycine Receptor: It’s not all about the Size

  2016cites this paper
• Ethanol effects on glycinergic transmission: From molecular pharmacology to behavior responses.

  2015cites this paper
• GENETIC INVESTIGATIONS AND COUNSELLING ON NEUROGENETIC DISORDERS

  2014cites this paper
• Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report

  2014cites this paper
• Novel mutations in the glycine receptor alpha subunit gene in two sisters with hyperekplexia.

  2014cites this paper
• Hyperekplexia

  2014cites this paper
• Ethnicity can predict GLRA1 genotypes in hyperekplexia

  2014cites this paper
• The impact of human hyperekplexia mutations on glycine receptor structure and function

  2014cites this paper
• Novel GLRB Gene Mutation in a Saudi Baby with Hyperekplexia

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• GLRB is the third major gene of effect in hyperekplexia.

  2013cites this paper
• New Hyperekplexia Mutations Provide Insight into Glycine Receptor Assembly, Trafficking, and Activation Mechanisms*

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• Glycine receptor mouse mutants: model systems for human hyperekplexia

  2013cites this paper
• Phobic anxiety disorder in hereditary hyperekplexia - Comorbidity or a coincidence: Case reports of two siblings

  2013cites this paper
• Differentiated Human Midbrain-Derived Neural Progenitor Cells Express Excitatory Strychnine-Sensitive Glycine Receptors Containing α2β Subunits

  2012cites this paper
• Hyperekplexia (Startle Disease)

  2012cites this paper
• 4-Chloropropofol enhances chloride currents in human hyperekplexic and artificial mutated glycine receptors

  2012cites this paper
• Ligand-gated ion channels: new insights into neurological disorders and ligand recognition.

  2012cites this paper
• Metabolic Context Regulates Distinct Hypothalamic Transcriptional Responses to Antiaging Interventions

  2012cites this paper
• Exaggerated startle reactions.

  2012cites this paper
• Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families

  2012influential citation
• Allosteric modulation of glycine receptors

  2011cites this paper
• Hyperekplexia: Treatment of a Severe Phenotype and Review of the Literature

  2011cites this paper
• Startle syndromes.

  2011cites this paper
• Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia

  2010cites this paper
• Fine architecture and mutation mapping of human brain inhibitory system ligand gated ion channels by high-throughput homology modeling.

  2010cites this paper
• Differential localization of γ‐aminobutyric acid type a and glycine receptor subunits and gephyrin in the human pons, medulla oblongata and uppermost cervical segment of the spinal cord: An immunohistochemical study

  2010cites this paper
• Chapter 32 - Startled People

  2010cites this paper
• Disease-related posttranscriptional modifications of glycine receptor mRNA under physiological and pathophysiological conditions

  2009cites this paper
• Inhibitory Glycine Receptors: An

  2009cites this paper
• The Glycinergic System in Human Startle Disease: A Genetic Screening Approach

  2009cites this paper
• The startle reflex in children with neuropsychiatric disorders

  2009cites this paper
• The borderland of epilepsy: clinical and molecular features of phenomena that mimic epileptic seizures.

  2009cites this paper
• Glycine transporter inhibitors as a novel drug discovery strategy for neuropathic pain.

  2009cites this paper
• Localization of Glycine Receptors in the Human Forebrain, Brainstem, and Cervical Spinal Cord: An Immunohistochemical Review

  2009cites this paper
• The localization of inhibitory neurotransmitter receptors on dopaminergic neurons of the human substantia nigra.

  2009cites this paper
• The genetics of hyperekplexia: more than startle!

  2008cites this paper
• A Critical Role for Glycine Transporters in Hyperexcitability Disorders

  2008cites this paper
• Instructions for submitting material for ''Clinical Corners in Sleep Medicine''

  2008cites this paper
• REM sleep behavior disorder and excessive startle reaction to visual stimuli in a patient with pontine lesions.

  2008cites this paper
• Clinical and Inheritance Profiles of Hyperekplexia in Jordan

  2007cites this paper
• MUTATIONS IN VAPB ARE NOT ASSOCIATED WITH SPORADIC ALS

  2007cites this paper
• Glycine receptors in the striatum, globus pallidus, and substantia nigra of the human brain: An immunohistochemical study

  2007cites this paper
• Synaptic function and modulation of glycine receptor channels in the hypoglossal nucleus

  2007cites this paper
• A Case of Major Form Familial Hyperekplexia: Prenatal Diagnosis and Effective Treatment With Clonazepam

  2007cites this paper
• HYPEREKPLEXIA CAUSED BY DOMINANT-NEGATIVE SUPPRESSION OF GLYRA1 FUNCTION

  2007cites this paper
• Clinical and inheritance profiles of hyperekplexia in Jordan.

  2007cites this paper
• Two Japanese families with hyperekplexia who have a Arg271Gln mutation in the glycine receptor alpha 1 subunit gene.

  2006cites this paper
• Functional recovery of glycine receptors in spastic murine model of startle disease.

  2006cites this paper
• Hyperekplexia in two siblings

  2006cites this paper
• Characterization of Mice with Targeted Deletion of Glycine Receptor Alpha 2

  2006cites this paper
• Disorders of Neurotransmission

  2006cites this paper
• Identification of the microdeletion breakpoint in a GLRA1null allele of Turkish hyperekplexia patients

  2006cites this paper
• Startle syndromes.

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• Hyperekplexia in Kurdish families: A possible GLRA1 founder mutation

  2006cites this paper
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• Hyperekplexia: a treatable neurogenetic disease.

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