• "Stiff neonate" with mitochondrial DNA depletion and secondary neurotransmitter defects
• 4-Chloropropofol enhances chloride currents in human hyperekplexic and artificial mutated glycine receptors
• A Case of Hyperekplexia That Started From Childhood: Clinical Diagnosis With Negative Genetic Investigations
• A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors
• A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia
• A Missense Mutation A384P Associated with Human Hyperekplexia Reveals a Desensitization Site of Glycine Receptors
• A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse
• A MusD retrotransposon insertion in the mouse Slc6a5 gene causes alterations in neuromuscular junction maturation and behavioral phenotypes
• A mutation (V260M) in the middle of the M2 pore-lining domain of the glycine receptor causes hereditary hyperekplexia
• A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature
• A Novel Glycine Receptor Variant with Startle Disease Affects Syndapin I and Glycinergic Inhibition
• A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia
• A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor trafficking
• A pedigree of hereditary hyperekplexia
• Active calcium accumulation underlies severe weakness in a panel of mice with slow-channel syndrome
• Advances in hyperekplexia and other startle syndromes
• Allosteric modulators can restore function in an amino acid neurotransmitter receptor by slightly altering intra-molecular communication pathways
• Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis
• Anesthetic management of a parturient with hyperekplexia
• C.292G>A, a novel glycine receptor alpha 1 subunit gene (GLRA1) mutation found in a Chinese patient with hyperekplexia: A case report
• Chapter 33: the history of movement disorders
• Charged residues at the pore extracellular half of the glycine receptor facilitate channel gating: a potential role played by electrostatic repulsion
• Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report
• Co-dominant inheritance of hyperekplexia and spastic paraparesis
• Corticospinal transmission to leg motoneurones in human subjects with deficient glycinergic inhibition
• Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia
• Deletion of the mouse glycine transporter 2 results in a hyperekplexia phenotype and postnatal lethality
• Different Behaviors of a Glycine Receptor Channel Pore Residue between Wild-Type-Mimicking and Disease-Type-Mimicking Formats
• Disease-specific human glycine receptor alpha1 subunit causes hyperekplexia phenotype and impaired glycine- and GABA(A)-receptor transmission in transgenic mice
• Dual requirement for gephyrin in glycine receptor clustering and molybdoenzyme activity
• Epilepsy in Ehlers-Danlos syndrome
• Essential startle disease may not be a uniform entity
• Exaggerated startle reactions
• Function of hyperekplexia-causing α1R271Q/L glycine receptors is restored by shifting the affected residue out of the allosteric signalling pathway
• Functional recovery of glycine receptors in spastic murine model of startle disease
• Glycine transporters GlyT1 and GlyT2 are differentially modulated by glycogen synthase kinase 3β
• Glycine transporters: essential regulators of neurotransmission
• Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families
• Hereditary Hyperekplexia in Saudi Arabia
• Hereditary Hyperekplexia Overview
• Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes
• Hyperekplexia
• Hyperekplexia and other startle syndromes
• Hyperekplexia in a patient with a brainstem vascular anomaly
• Hyperekplexia in two siblings
• Hyperexplexia: not hereditary stiff-baby syndrome
• Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report
• Identification of intracellular and extracellular domains mediating signal transduction in the inhibitory glycine receptor chloride channel
• Identification of the microdeletion breakpoint in a GLRA1null allele of Turkish hyperekplexia patients
• Impaired glycinergic transmission in hyperekplexia: a model of parasomnia overlap disorder
• Incompatibility between a pair of residues from the pre-M1 linker and Cys-loop blocks surface expression of the glycine receptor
• Index of Suspicion * Case 1: Voiding difficulty in a 10-year-old * Case 2: Seizure-like activity precipitated by loud noise in a 2-year-old * Case 3: purplish-brown, shiny upper extremity lesion and stiff hand in a 9-year-old
• Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia
• Lessons from the knocked-out glycine transporters
• Magnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene
• Major and minor form of hereditary hyperekplexia
• Molecular bases of hereditary hyperekplexia
• Movement disorders with neuronal antibodies: syndromic approach, genetic parallels and pathophysiology
• Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia
• Mutations in the glycine receptor alpha1 subunit (GLRA1) gene in hereditary hyperekplexia pedigrees: evidence for non-penetrance of mutation Y279C
• Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease
• Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia
• New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms
• Nociception in the Glycine Receptor Deficient Mutant Mouse Spastic
• Non-hereditary +hyperekplexia. Study of a patient with unusual ictal EEG features and review of the literature
• Novel mutation in GLRB in a large family with hereditary hyperekplexia
• Pair of Residue Substitutions at the Outer Mouth of the Channel Pore Act as Inputs for a Boolean Logic "OR" Gate Based on the Glycine Receptor
• Pathophysiology of the glutamate and the glycine transporters: new therapeutic targets
• Patients with the major and minor form of hyperekplexia differ with regards to disynaptic reciprocal inhibition between ankle flexor and extensor muscles
• Physiological abnormalities in hereditary hyperekplexia
• Physiological studies of spinal inhibitory pathways in patients with hereditary hyperekplexia
• Presynaptic glycine receptors as a potential therapeutic target for hyperekplexia disease
• Propofol restores the function of "hyperekplexic" mutant glycine receptors in Xenopus oocytes and mice
• Severe normotensive metabolic alkalosis in a 2-month-old boy with hyperekplexia
• Startle and its disorders
• Startle responses in hereditary hyperekplexia
• Startle syndromes
• Teaching Video NeuroImage: Hereditary Hyperekplexia Mimicking Tonic Seizures in an Infant
• Teaching Video NeuroImages: Cautious walking gait in siblings with hereditary hyperekplexia
• The Beneficence of Cuddle Therapy in Hyperekplexia: A Case Report
• The hyperekplexias and their relationship to the normal startle reflex
• The impact of human hyperekplexia mutations on glycine receptor structure and function
• The novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptor
• The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures
• The startle pattern in the minor form of hyperekplexia
• Transient neuromotor phenotype in transgenic spastic mice expressing low levels of glycine receptor beta-subunit: an animal model of startle disease
• Trigeminally induced startle in children with hyperekplexia
• TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family
• Weird Laughing in Hyperekplexia: A new phenotype associated with a novel mutation in the GLRA1 gene?
• β Subunit M2-M3 loop conformational changes are uncoupled from α1 β glycine receptor channel gating: implications for human hereditary hyperekplexia