Hyperekplexia-like syndromes without mutations in the GLRA1 gene
about
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5RHyperekplexia in the first year of lifeHyperekplexia in neonatesStructure and functions of inhibitory and excitatory glycine receptors.The startle syndrome.Major and minor form of hereditary hyperekplexia.A Startling Case of Neonatal Hyperekplexia Responsive to Levetiracetam: A New Alternative in Management?Hyperekplexia: a Chinese adolescent with 2 novel mutations of the GLRA1 gene.
P2860
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P2860
Hyperekplexia-like syndromes without mutations in the GLRA1 gene
description
1997 nî lūn-bûn
@nan
1997 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Hyperekplexia-like syndromes without mutations in the GLRA1 gene
@ast
Hyperekplexia-like syndromes without mutations in the GLRA1 gene
@en
Hyperekplexia-like syndromes without mutations in the GLRA1 gene
@nl
type
label
Hyperekplexia-like syndromes without mutations in the GLRA1 gene
@ast
Hyperekplexia-like syndromes without mutations in the GLRA1 gene
@en
Hyperekplexia-like syndromes without mutations in the GLRA1 gene
@nl
prefLabel
Hyperekplexia-like syndromes without mutations in the GLRA1 gene
@ast
Hyperekplexia-like syndromes without mutations in the GLRA1 gene
@en
Hyperekplexia-like syndromes without mutations in the GLRA1 gene
@nl
P2093
P1476
Hyperekplexia-like syndromes without mutations in the GLRA1 gene
@en
P2093
J G van Dijk
M A Tijssen
M N Vergouwe
R A Ophoff
R R Frants
S al Shahwan
P356
10.1016/S0303-8467(97)00022-X
P407
P577
1997-08-01T00:00:00Z