Startle disease or hyperekplexia: further delineation of the syndrome.
about
Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genesRecent Advances and Review on Treatment of Stiff Person Syndrome in Adults and Pediatric PatientsSynaptopathies: synaptic dysfunction in neurological disorders - A review from students to studentsHyperekplexia in the first year of lifeIsoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexiaLatah in Jakarta, IndonesiaHyperekplexia in neonatesClonazepam-induced Tourette syndrome in a subject with hyperexplexiaTransient neuromotor phenotype in transgenic spastic mice expressing low levels of glycine receptor beta-subunit: an animal model of startle disease.Presynaptic glycine receptors as a potential therapeutic target for hyperekplexia disease.Glycine receptor mouse mutants: model systems for human hyperekplexiaA novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT24-Chloropropofol enhances chloride currents in human hyperekplexic and artificial mutated glycine receptors.Glycine receptor mutants of the mouse: what are possible routes of inhibitory compensation?The glycinergic system in human startle disease: a genetic screening approach.The effect of posture on the normal and pathological auditory startle reflexGenetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q.Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.The startle syndrome.Idiopathic generalized epilepsies: clinical and electroencephalogram diagnosis and treatment.A novel GLRA1 mutation associated with an atypical hyperekplexia phenotype.Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: a new syndrome?Hyperexplexia or stiff baby syndrome.Hyperekplexia in a girl with posterior fossa malformations.Mutations affecting glycinergic neurotransmission in hyperekplexia increase pain sensitivity.Essential startle disease may not be a uniform entity.Hyperekplexia: a Chinese adolescent with 2 novel mutations of the GLRA1 gene.Clinical features and genetic analysis of children with hyperekplexia in Korea.From the jumping Frenchmen of Maine to posttraumatic stress disorder: the startle response in neuropsychiatry
P2860
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P2860
Startle disease or hyperekplexia: further delineation of the syndrome.
description
1980 nî lūn-bûn
@nan
1980年の論文
@ja
1980年論文
@yue
1980年論文
@zh-hant
1980年論文
@zh-hk
1980年論文
@zh-mo
1980年論文
@zh-tw
1980年论文
@wuu
1980年论文
@zh
1980年论文
@zh-cn
name
Startle disease or hyperekplexia: further delineation of the syndrome.
@en
type
label
Startle disease or hyperekplexia: further delineation of the syndrome.
@en
prefLabel
Startle disease or hyperekplexia: further delineation of the syndrome.
@en
P2093
P356
P1433
P1476
Startle disease or hyperekplexia: further delineation of the syndrome.
@en
P2093
Andermann E
Andermann F
Quesney LF
P304
P356
10.1093/BRAIN/103.4.985
P407
P577
1980-12-01T00:00:00Z