alternating hemiplegia of childhood
GPTKB entity
Statements (34)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
neurological disorder
rare disease |
| gptkbp:abbreviation |
gptkb:AHC
|
| gptkbp:affects |
children
|
| gptkbp:causedBy |
mutation in ATP1A3 gene
|
| gptkbp:firstDescribed |
1971
|
| gptkbp:hasEpisodicNature |
yes
|
| gptkbp:hasOrphanetID |
ORPHA:478
|
| gptkbp:hasRemissionDuringSleep |
yes
|
| gptkbp:hasSeizures |
yes
|
| https://www.w3.org/2000/01/rdf-schema#label |
alternating hemiplegia of childhood
|
| gptkbp:ICD-10_code |
G11.8
|
| gptkbp:inheritance |
sporadic
|
| gptkbp:OMIM |
614820
|
| gptkbp:onset |
infancy
|
| gptkbp:prevalence |
less than 1 in 1,000,000
|
| gptkbp:progression |
may worsen over time
|
| gptkbp:symptom |
intellectual disability
developmental delay dystonia abnormal eye movements choreoathetosis paralysis affecting one or both sides of the body recurrent episodes of hemiplegia |
| gptkbp:treatment |
antiepileptic drugs
flunarizine |
| gptkbp:triggeredBy |
stress
fatigue excitement temperature changes water exposure |
| gptkbp:bfsParent |
gptkb:ATP1A2
gptkb:Na+/K+_ATPase |
| gptkbp:bfsLayer |
8
|