Hyperekplexia

09/15/2009 - "Clonazepam is an effective treatment for hyperekplexia due to a SLC6A5 (GlyT2) mutation."
01/01/2018 - "Hyperekplexia is a rare, genetically determined disorder characterized by hypertonia and exaggerated startle reactions to a banal stimulus, which can be improved with clonazepam."
02/02/2017 - "Conclusion: The patient presented typical clinical manifestations of hyperekplexia and had a good response to clonazepam. "
01/01/2017 - "Clonazepam is an effective medical treatment for hyperekplexia. "
12/01/2005 - "MoCo deficiency should be considered in the differential diagnosis of neonatal hyperekplexia, particularly in the instances of refractoriness to clonazepam, an early demise in infancy or the evidence of no mutations in the GLRA1 gene."

07/15/2002 - "Hyperekplexia mutation of glycine receptors: decreased gating efficacy with altered binding thermodynamics."
01/07/2015 - "Recent studies on the pathogenic mechanisms of recessive hyperekplexia indicate disturbances in glycine receptor (GlyR) α1 biogenesis. "
01/01/2022 - "The genetic causes of the disease can vary, and several associated genes and mutations have been reported to affect glycine receptors (GlyRs); however, the mechanistic links between GlyRs and hyperekplexia are not yet understood. "
01/01/2022 - "Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome."
04/01/2020 - "C.292G>A, a novel glycine receptor alpha 1 subunit gene (GLRA1) mutation found in a Chinese patient with hyperekplexia: A case report."

01/01/2017 - "Despite its position near the binding site, E103K causes hyperekplexia by impairing the efficacy of glycine, its ability to gate the channel once bound, which is very high in wild type GlyR. "
05/01/2015 - "Using metabolomics and behavioral and electrophysiological methods, we demonstrate that Asc-1 knockout mice display a marked decrease in glycine levels in the brain and spinal cord along with impairment of glycinergic inhibitory transmission, and a hyperekplexia-like phenotype that is rescued by replenishing brain glycine. "
01/01/2021 - "However, this manipulation dramatically compromises sensitivity toward the agonist glycine and alters the pharmacological effects of various agents in manners similar to those of the hyperekplexia-causing R19'Q/L mutations, raising the question whether what is reported by the substituted and modified residue faithfully reflects what actually happens to the wild-type (WT) residue. "
12/15/2020 - "Hyperekplexia was suspected and confirmed by genetic testing (mutation in the β subunit of glycine was found). "
10/21/2020 - "The hyperekplexia-causing R271Q mutation, which is located at the extracellular outer mouth of the channel pore, dramatically impairs the GlyR function manifesting a reduced sensitivity toward glycine. "

02/01/2002 - "Low-dose clobazam is effective in the treatment of hyperekplexia and is well tolerated in infants."
02/01/2002 - "We report two cases of severe infantile hyperekplexia successfully treated with low-dose clobazam. "
02/01/2002 - "Successful treatment of severe infantile hyperekplexia with low-dose clobazam."
01/01/2015 - "Clobazam-clonazepam combination effective for stimulus-induced falling in hyperekplexia."
01/01/2007 - "Clonazepam and clobazam were prescribed under the impression of hyperekplexia after the infant reached one month, and the apnea attacks quickly decreased. "

01/01/2013 - "Our results contribute to the elucidation of the mechanisms underlying the dynamic trafficking of this important neuronal protein which has pathological relevance since mutations in the GlyT2 gene (SLC6A5) are the second most common cause of human hyperekplexia."
07/04/2003 - "In addition, we adopted a yeast two-hybrid screen, using the GlyR beta subunit intracellular loop as bait, in an attempt to identify further GlyR-interacting proteins implicated in hyperekplexia. "
07/01/1995 - "Thus, only clinically typical hyperekplexia appears to be consistently associated with GLRA1 mutations, and these affect a specific extracellular domain of the protein."
11/04/2002 - "Glycine-receptor mutations, either associated with the human motor disorder hyperekplexia or artificially introduced, have helped to define the regulatory domains of the receptor protein. "
11/01/2013 - "Mutations in genes encoding for glycine receptor subunits or associated proteins, such as GLRA1, GLRB, GPHN and ARHGEF9, have been detected in patients suffering from hyperekplexia. "

01/01/2021 - "High dose Piracetam should be considered in infants with similar severe hyperekplexia-like/breath-holding events as it may be beneficial in ameliorating the acute and chronic course in these children."
01/01/2021 - "Unique Severe HyperEkplexia-Like Apneic Events (SHELAE) Improved by High-Dose Piracetam."
01/01/2021 - "We describe a case of an infant with frequent hyperekplexia-like breath-holding events who failed to respond adequately to glycopyrrolate, pace-maker insertion and clonazepam, who had marked improvement in his symptoms with high dose Piracetam. "

01/01/2021 - "We describe a case of an infant with frequent hyperekplexia-like breath-holding events who failed to respond adequately to glycopyrrolate, pace-maker insertion and clonazepam, who had marked improvement in his symptoms with high dose Piracetam. "

08/17/2012 - "In this study, systematic DNA sequencing of SLC6A5 in 93 new unrelated human hyperekplexia patients revealed 20 sequence variants in 17 index cases presenting with homozygous or compound heterozygous recessive inheritance. "
07/14/2010 - "In this study, systematic DNA sequencing of GLRA1 in 88 new unrelated human hyperekplexia patients revealed 19 sequence variants in 30 index cases, of which 21 cases were inherited in recessive or compound heterozygote modes. "
04/01/2020 - "Genetic DNA sequencing is a crucial method for diagnosing hyperekplexia-related gene mutation."
04/01/2013 - "Systematic DNA sequencing of GLRB in individuals with hyperekplexia revealed new missense mutations in GLRB, resulting in M177R, L285R and W310C substitutions. "
05/01/2014 - "Although DNA results often defy prediction by the best of clinicians, these patients illustrate needs for ongoing clinical scholarship (e.g., to delineate guidelines for management of mutations like that for hyperekplexia in Patient 2) and for interpretation of polygenic change that is optimized by clinical genetic/syndromology experience (e.g., suggesting acetazolamide therapy for Patient 1 and explaining arthrogryposis in Patient 2)."

12/16/2008 - "Recent studies have reveals that mutations in the neuronal glycine transporter GLYT2 are a second major cause of hyperekplexia. "
01/01/2021 - "Rescue of two trafficking-defective variants of the neuronal glycine transporter GlyT2 associated to hyperekplexia."
12/01/2019 - "Glycine transporter 2 (GlyT2) mutations across the entire sequence have been shown to represent the presynaptic component of the neurological disease hyperekplexia. "
12/01/2019 - "The P429L loss of function mutation of the human glycine transporter 2 associated with hyperekplexia."
01/01/2019 - "Hyperekplexia-associated mutations in the neuronal glycine transporter 2."

07/14/2010 - "This study also reports the first hyperekplexia mutation associated with a GlyR leak conductance, suggesting tonic channel opening as a new mechanism in neuronal ligand-gated ion channels."
11/22/2013 - "Inhibitory glycine receptors are pentameric ligand-gated ion channels with a definitive and clinically well stratified linkage to hyperekplexia. "
09/01/2005 - "Glycine receptors (GlyR) are ligand-gated ion channels that inhibit neurotransmission in the spinal cord and brainstem, and mutations in GlyR can cause the human disease hyperekplexia, which is characterized by elevated startle responses. "
01/01/2020 - "Ligand-gated ion channels, including glycine, γ-aminobutyric acid type A and nicotinic acetylcholine receptors, have long been known to harbour genetic variants associated with hyperekplexia and different forms of epilepsy. "

12/01/1983 - "Hyperekplexia in an 8-year-old boy with myelodysplasia was greatly improved by surgical decompression of the cervicomedullary region. "
12/01/1983 - "Hyperekplexia relieved by surgical decompression of the cervicomedullary region."

02/02/2017 - "The symptoms of hyperekplexia all could be improved in different degree after treatment, and 84% (32/38) of the cases were completely controlled or only existed exaggerated startle reflexes. "

02/01/2020 - "The Beneficence of Cuddle Therapy in Hyperekplexia: A Case Report."
04/15/2010 - "Such GlyR modulators have potential application as pharmacological tools, and as leads for the development of GlyR targeting therapeutics to treat chronic inflammatory pain, epilepsy, spasticity and hyperekplexia."
01/01/2021 - "This work identifies N-arachidonoyl glycine as a promising compound with potential for hyperekplexia therapy."
05/01/2014 - "Although DNA results often defy prediction by the best of clinicians, these patients illustrate needs for ongoing clinical scholarship (e.g., to delineate guidelines for management of mutations like that for hyperekplexia in Patient 2) and for interpretation of polygenic change that is optimized by clinical genetic/syndromology experience (e.g., suggesting acetazolamide therapy for Patient 1 and explaining arthrogryposis in Patient 2)."
01/01/2022 - "Several variants were detected that indicated possible personalized therapies: SLC2A1 led to dystonia or epilepsy, which can be treated with a ketogenic diet; SLC6A3 led to infantile parkinsonism-dystonia 1, which can be treated with levodopa; SLC6A5 led to hyperekplexia 3, for which unnecessary treatment with antiepileptic drugs should be avoided; SLC6A8 led to creatine deficiency syndrome type 1, which can be treated with creatine monohydrate; SLC16A1 led to monocarboxylate transporter 1 deficiency, which causes seizures that should not be treated with a ketogenic diet; SLC19A3 led to biotin-thiamine-responsive basal ganglia disease, which can be treated with biotin and thiamine; and SLC52A3 led to Brown-Vialetto-Van-Laere syndrome 1, which can be treated with riboflavin. "

12/01/2019 - "The diagnosis altered the patient's medical care to his benefit because SLC6A5 mutations with rather benign courses of hyperekplexia may be spared of needless pharmacotherapy. "
04/01/1994 - "Serious complications of pharmacotherapy with clonazepam, the drug of choice for hyperekplexia, can be avoided by first evaluating for OSA."

11/14/2000 - "One patient underwent microvascular decompression with normalization of arterial hypertension, disappearance of hyperekplexia, and improvement of spastic paresis. "