A case of childhood hyperekplexia due to a novel nonsense variant in the GLRA1 gene.

Clinical features of progressive encephalomyelitis with rigidity and myoclonus: Case Report.

A Novel Variant in GLRA1 Associated With Emotional Stimulus-Sensitive Hemichoreic Movements.

A fatal infantile case with suspected hyperekplexia.

Hereditary Hyperekplexia Presenting with Muscle Stiffness, Seizures and Recurrent Apneas in An Infant.

Familial Hyperekplexia Caused by a Novel Homozygous SLC6A5 Variant: A Case Report.

Deciphering the molecular mechanisms of startle disease: The role of the Asn46Lys mutation in the glycine receptor.

A New GlyT2 Variant Associated with Hyperekplexia.

A novel GLRB mutation in neonatal hyperekplexia with divergent EEG findings: a case series.

Progressive encephalomyelitis with rigidity and myoclonus after thymectomy in a woman with myasthenia gravis.

Glycine receptors: Structure, function, and therapeutic implications.

STARDEV Study: Neurodevelopmental Trajectory and Long-Term Outcomes of Patients with Startle Disease/Hyperekplexia.

The implications of hyperekplexia on children's quality of life: a report on two cases.

Motor phenotyping in a Greek cohort of patients with neonatal and infantile onset developmental and epileptic encephalopathy.

A frameshift variant in the SLC6A5 gene is associated with startle disease in a family of Old English Sheepdogs.

Rafiq Syndrome: Old Variant in MAN1B1 Gene and Some New Phenotypic Features.

Methylphenidate-Associated Hyperekplexia.

DPPX antibody-mediated disease mimicking Wernicke's encephalopathy.

Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review.

Clinical and Paraclinical Characterizations, Management, and Prognosis in DPPX Antibody-Associated Encephalitis: A Systematic Review.

Neonatal hyperekplexia: a non-epileptic paroxysmal movement disorder with a novel homozygous mutation in the GLRB gene, a seizure mimic.

An Adult Case of Genetically Confirmed Hyperekplexia Presenting with Head Trauma.

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

Progressive Encephalomyelitis With Rigidity and Myoclonus With Glycine Receptor and GAD65 Antibodies: Case Report and Potential Mechanisms.

Hyperekplexia: A Single-Center Experience.

Role of palmitoylation on the neuronal glycine transporter GlyT2.

Hyperekplexia: Unveiling a Rare Neurological Condition With a Treatable Solution.

The One with Many Facets: Anti-Glycine Receptor Antibodies-Related Parkinsonism with Complex Visual Phenomena and Stiff-Limb Syndrome.

[Clinical and genetic analysis of three children with Hyperekplexia].

Neuropsychiatric Presentation of Anti-DPPX Progressive Encephalomyelitis with Rigidity and Myoclonus.

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.

Generalized Stiffness in Hereditary Hyperekplexia Responsive to Trihexyphenidyl: A Novel Finding.

Symptomatic hyperekplexia: an important clue to neurodegeneration in children.

Stiff Person Spectrum Disorders-An Update and Outlook on Clinical, Pathophysiological and Treatment Perspectives.

Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A.

Hyperekplexia: A Treatable Seizure Mimicker in Infants.

A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia.

A novel homozygous loss-of-function variant in SOD1 causing progressive spastic tetraplegia and axial hypotonia.

The c.126C>A(p.(Cys42Ter)) SLC7A10 nonsense variant is a candidate causative variant for paradoxical pseudomyotonia in English Cocker and Springer Spaniels.

Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.

Myoclonus status revealing COVID 19 infection.

Four Turkish families with hyperekplexia: A missense mutation and the exon 1-7 deletion in the GLRA1 gene.

Startle Disease: An Overlooked Symptom of CTNNB1-Related Neurodevelopmental Disorder With Spastic Diplegia and Visual Defects.

Anti-glycine receptor antibody-positive progressive encephalomyelitis with rigidity and myoclonus initially presenting with one-sided stiff face: A case report.

Myoclonus and other jerky movement disorders.

Hyperekplexia with congenital heart disease: anesthetic concerns and management.

Hereditary Hyperekplexia in Saudi Arabia.

Exploring the Conformational Impact of Glycine Receptor TM1-2 Mutations Through Coarse-Grained Analysis and Atomistic Simulations.

Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes.

Nociception in the Glycine Receptor Deficient Mutant Mouse Spastic.

Facial Palsy as Initial Symptom in Glycine Receptor Antibody Positive Progressive Encephalomyelitis With Rigidity and Myoclonus: A Case Report.

Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome.

Hyperekplexia: A Frequent Near Miss in Infants and Young Children.

Anesthetic Management of an Adult With Hyperekplexia Undergoing a Laparoscopic Colectomy: A Case Report.

Research Progress in the Study of Startle Reflex to Disease States.

Identification of a stereotypic molecular arrangement of endogenous glycine receptors at spinal cord synapses.

SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population.

Unique Severe HyperEkplexia-Like Apneic Events (SHELAE) Improved by High-Dose Piracetam.

The presynaptic glycine transporter GlyT2 is regulated by the Hedgehog pathway in vitro and in vivo.

Novel Functional Properties of Missense Mutations in the Glycine Receptor β Subunit in Startle Disease.

Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.

Different Behaviors of a Glycine Receptor Channel Pore Residue between Wild-Type-Mimicking and Disease-Type-Mimicking Formats.

Autoimmune GFAP astrocytopathy presenting with remarkable CNS hyperexcitability and oculogyric crises.

Advances in hyperekplexia and other startle syndromes.

Case Report: Dexmedetomidine for Intractable Clusters of Myoclonic Jerks and Paroxysmal Sympathetic Hyperactivity in Progressive Encephalomyelitis With Rigidity and Myoclonus.

Teaching Video NeuroImage: Hereditary Hyperekplexia Mimicking Tonic Seizures in an Infant.

Delivery of trans-membrane proteins by liposomes; the effect of liposome size and formulation technique on the efficiency of protein delivery.

A proline-rich motif in the large intracellular loop of the glycine receptor α1 subunit interacts with the Pleckstrin homology domain of collybistin.

Rescue of two trafficking-defective variants of the neuronal glycine transporter GlyT2 associated to hyperekplexia.

Calcium-Dependent Regulation of the Neuronal Glycine Transporter GlyT2 by M2 Muscarinic Acetylcholine Receptors.

Iliopsoas Hematomas in a Patient with Progressive Encephalomyelitis with Rigidity and Myoclonus.

Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B.

Abnormal neurodevelopment outcome in case of neonatal hyperekplexia secondary to missense mutation in GLRB gene.

Subunit-Specific Photocontrol of Glycine Receptors by Azobenzene-Nitrazepam Photoswitcher.

A System for Assessing Dual Action Modulators of Glycine Transporters and Glycine Receptors.

Congenital immobility and stiffness related to biallelic ATAD1 variants.

Case report of a PRDM5 linked brittle cornea syndrome type 2 in association with a novel SLC6A5 mutation.

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.

A new family with GLRB-related hyperekplexia showing chorea in homo- and heterozygous variant carriers.

Anxiety and Startle Phenotypes in Glrb Spastic and Glra1 Spasmodic Mouse Mutants.

Charged residues at the pore extracellular half of the glycine receptor facilitate channel gating: a potential role played by electrostatic repulsion.

Hyperekplexia and other startle syndromes.

GlyT1 encephalopathy: Characterization of presumably disease causing GlyT1 mutations.

Neurobiology of glycine transporters: From molecules to behavior.

Hyperekplexia: a surprise diagnosis.

Ligand-gated ion channels in genetic disorders and the question of efficacy.

The Head Retraction Reflex in Niemann-Pick Type C: A Novel Diagnostic Clue.

Top of Basilar Syndrome Presenting With Hyperekplexia Initially Diagnosed as a Convulsive Status Epilepticus.

The startle disease mutation α1S270T predicts shortening of glycinergic synaptic currents.

The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus.

A Novel Glycine Receptor Variant with Startle Disease Affects Syndapin I and Glycinergic Inhibition.

C.292G>A, a novel glycine receptor alpha 1 subunit gene (GLRA1) mutation found in a Chinese patient with hyperekplexia: A case report.

Approach to exaggerated startle reflex: a case of hyperekplexia minor.

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

Ataxia telangiectasia like disorder: Another dopa-responsive disorder look-alike?

Modulation of glycine receptor single-channel conductance by intracellular phosphorylation.

Clinical spectrum and diagnostic pitfalls of neurologic syndromes with Ri antibodies.

A Case of Hyperekplexia That Started From Childhood: Clinical Diagnosis With Negative Genetic Investigations.

Not every excessive startle is hyperekplexia, the curious case of SOD1.

The synthetic cannabinoid dehydroxylcannabidiol restores the function of a major GABAA receptor isoform in a cell model of hyperekplexia.

A Refined Open State of the Glycine Receptor Obtained via Molecular Dynamics Simulations.

Creutzfeldt-Jakob disease presenting with encephalopathy, rigidity, and hyperekplexia.

A Preschooler Girl With Hyperekplexia Treated With Escitalopram.

E3 ubiquitin ligases LNX1 and LNX2 are major regulators of the presynaptic glycine transporter GlyT2.

Novel mutations in SLC6A5 with benign course in hyperekplexia.

Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force.

The Beneficence of Cuddle Therapy in Hyperekplexia: A Case Report.

Hijacking of GABAA Receptors by Mutant Glycine Receptors.

Human Hyperekplexic Mutations in Glycine Receptors Disinhibit the Brainstem by Hijacking GABAA Receptors.

Impaired glycinergic transmission in hyperekplexia: a model of parasomnia overlap disorder.

The P429L loss of function mutation of the human glycine transporter 2 associated with hyperekplexia.

SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.

Molecular Specialization of GABAergic Synapses on the Soma and Axon in Cortical and Hippocampal Circuit Function and Dysfunction.

Special issue on canine genetics: animal models for human disease and gene therapies, new discoveries for canine inherited diseases, and standards and guidelines for clinical genetic testing for domestic dogs.

Individual knock out of glycine receptor alpha subunits identifies a specific requirement of glra1 for motor function in zebrafish.

Inhibitory Actions of Tropeines on the α3 Glycine Receptor Function.

Teaching Video NeuroImages: Cautious walking gait in siblings with hereditary hyperekplexia.

Current Overview of Neonatal Convulsions.

Rescue by 4-phenylbutyrate of several misfolded creatine transporter-1 variants linked to the creatine transporter deficiency syndrome.

The role of tonic glycinergic conductance in cerebellar granule cell signalling and the effect of gain-of-function mutation.

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

Movement disorders in early MS and related diseases: A prospective observational study.

A glycine transporter SLC6A5 frameshift mutation causes startle disease in Spanish greyhounds.

Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome.

[Pathophysiology of the glutamate and the glycine transporters: new therapeutic targets].

A case report of rigidity and recurrent lower limb myoclonus: progressive encephalomyelitis rigidity and myoclonus syndrome, a chameleon.

Characterization of the Zebrafish Glycine Receptor Family Reveals Insights Into Glycine Receptor Structure Function and Stoichiometry.

Modification of a Putative Third Sodium Site in the Glycine Transporter GlyT2 Influences the Chloride Dependence of Substrate Transport.

The postnatal development of ultrasonic vocalization-associated breathing is altered in glycine transporter 2-deficient mice.

[Non-epileptic paroxysmal disorder in neonates].

A novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia.

GLRA1 mutation and long-term follow-up of the first hyperekplexia family.

A child with hyperekplexia and epileptic myoclonus.

Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy.

[A pedigree of hereditary hyperekplexia].

Seizures in 3-month-old infant when placed on stomach.

Hyperekplexia-associated mutations in the neuronal glycine transporter 2.

Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus.

Nose-tapping Test in Hyperekplexia.

Weird Laughing in Hyperekplexia: A new phenotype associated with a novel mutation in the GLRA1 gene?

Startles, Stiffness, and SLC6A5: Do You Know the Condition?

Glycine receptor modulating antibody predicting treatable stiff-person spectrum disorders.

Structure/Function Studies of the α4 Subunit Reveal Evolutionary Loss of a GlyR Subtype Involved in Startle and Escape Responses.

A Missense Mutation A384P Associated with Human Hyperekplexia Reveals a Desensitization Site of Glycine Receptors.

Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency.

Mutations affecting glycinergic neurotransmission in hyperekplexia increase pain sensitivity.

SLC6 Transporter Folding Diseases and Pharmacochaperoning.

Sporadic hyperekplexia due to self-limiting brainstem encephalopathy.

Movement disorders with neuronal antibodies: syndromic approach, genetic parallels and pathophysiology.

A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature.

CACNA1A-related early-onset encephalopathy with myoclonic epilepsy: A case report.

Hyperekplexia: A forgotten diagnosis clinched by next-generation sequencing.

[Myoclonus as a movement disorder].

P2X receptors up-regulate the cell-surface expression of the neuronal glycine transporter GlyT2.

Disruption of a Structurally Important Extracellular Element in the Glycine Receptor Leads to Decreased Synaptic Integration and Signaling Resulting in Severe Startle Disease.

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.

The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures.

From dizziness to severe ataxia and dysarthria: New cases of anti-Ca/ARHGAP26 autoantibody-associated cerebellar ataxia suggest a broad clinical spectrum.

Clinical and Electrophysiological Findings in Two Siblings with Familial Hyperekplexia.

Sporadic Hyperekplexia Plus Syndrome.

Glycine Receptor Drug Discovery.

Cataplexy and Its Mimics: Clinical Recognition and Management.

The role of charged residues in independent glycine receptor folding domains for intermolecular interactions and ion channel function.

Teaching Video NeuroImages: Hyperekplexia: A syndrome of pathologic startle responses.

DPPX antibody-associated encephalitis: Main syndrome and antibody effects.

The Startle Disease Mutation E103K Impairs Activation of Human Homomeric α1 Glycine Receptors by Disrupting an Intersubunit Salt Bridge across the Agonist Binding Site.

[Clinical and genetic analysis of hyperekplexia in a Chinese child and literature review].

GLRB allelic variation associated with agoraphobic cognitions, increased startle response and fear network activation: a potential neurogenetic pathway to panic disorder.

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

Visually evoked startle response in a patient with epilepsy: a case report and review of the literature.

Glycinergic transmission: glycine transporter GlyT2 in neuronal pathologies.

Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients.

Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine.

The astrocytic transporter SLC7A10 (Asc-1) mediates glycinergic inhibition of spinal cord motor neurons.

[Autoimmune encephalitis due to mantle cell lymphoma].

The Free Zinc Concentration in the Synaptic Cleft of Artificial Glycinergic Synapses Rises to At least 1 μM.

Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype.

Defects of the Glycinergic Synapse in Zebrafish.

Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report.

Synaptopathies: synaptic dysfunction in neurological disorders - A review from students to students.

Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder.

Investigating the Mechanism by Which Gain-of-function Mutations to the α1 Glycine Receptor Cause Hyperekplexia.

Murine startle mutant Nmf11 affects the structural stability of the glycine receptor and increases deactivation.

A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report.

Presynaptic facilitation of glycinergic mIPSC is reduced in mice lacking α3 glycine receptor subunits.

Asc-1 Transporter Regulation of Synaptic Activity via the Tonic Release of d-Serine in the Forebrain.

The Diagnosis and Treatment of Autoimmune Encephalitis.

Disturbances of Ligand Potency and Enhanced Degradation of the Human Glycine Receptor at Affected Positions G160 and T162 Originally Identified in Patients Suffering from Hyperekplexia.

TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family.

Hyperekplexia as the presenting symptom of Creutzfeldt-Jakob disease.

Glycine receptor mechanism elucidated by electron cryo-microscopy.

[Hyperekplexia associated to precocious puberty].

Anesthetic management of a parturient with hyperekplexia.

The alanine-serine-cysteine-1 (Asc-1) transporter controls glycine levels in the brain and is required for glycinergic inhibitory transmission.

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome may have a hypothalamus-periaqueductal gray localization.

Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure.