KEGG   DISEASE: HyperekplexiaHelp
Entry
H00769                      Disease                                

Name
Hyperekplexia;
Startle disease
  Subgroup
Hyperekplexia and epilepsy [DS:H02353]
Description
Hyperekplexia, also known as startle disease, is a paroxysmal neurological disorder caused by defects in glycinergic neurotransmission. Hyperekplexia is characterized by neonatal hypertonia and an exaggerated startle reflex in response to acoustic or tactile stimuli. Genetic analysis has revealed mutations in genes for several postsynaptic proteins involved in orchestrating glycinergic neurotransmission, including the glycine receptor (GlyR) alpha1 and beta subunits.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H00769  Hyperekplexia
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H00769  Hyperekplexia
BRITE hierarchy
Pathway
hsa04080  Neuroactive ligand-receptor interaction
hsa04721  Synaptic vesicle cycle
Gene
(HKPX1) GLRA1 [HSA:2741] [KO:K05193]
(HKPX2) GLRB [HSA:2743] [KO:K05196]
(HKPX3) SLC6A5 [HSA:9152] [KO:K05038]
(HKPX4) ATAD1 [HSA:84896] [KO:K22530]
Other DBs
ICD-11: LD90.Y
ICD-10: G25.8
MeSH: D016750
OMIM: 149400 614619 614618 618011
Reference
  Authors
Harvey RJ, Topf M, Harvey K, Rees MI
  Title
The genetics of hyperekplexia: more than startle!
  Journal
Trends Genet 24:439-47 (2008)
DOI:10.1016/j.tig.2008.06.005
Reference
  Authors
Davies JS, Chung SK, Thomas RH, Robinson A, Hammond CL, Mullins JG, Carta E, Pearce BR, Harvey K, Harvey RJ, Rees MI
  Title
The glycinergic system in human startle disease: a genetic screening approach.
  Journal
Front Mol Neurosci 3:8 (2010)
DOI:10.3389/fnmol.2010.00008

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