KEGG   DISEASE: Alternating hemiplegia of childhood
Entry
H00998                      Disease                                

Name
Alternating hemiplegia of childhood
Description
Alternating hemiplegia of childhood (AHC) is a rare disorder with onset before 18 months of age. The earliest manifestations of AHC are recurrent bilateral attacks of hemiplegia lasting minutes to days, abnormal ocular movements, and autonomic disturbances. A characteristic feature of AHC is the disappearance of all abnormalities when the child falls asleep.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H00998  Alternating hemiplegia of childhood
Human diseases in ICD-11 classification [BR:br08403]
 21 Symptoms, signs or clinical findings, not elsewhere classified
  Symptoms, signs or clinical findings of the nervous system
   Symptoms or signs involving the nervous system
    Paralytic symptoms
     MB53  Hemiplegia
      H00998  Alternating hemiplegia of childhood
Pathway
hsa04960  Aldosterone-regulated sodium reabsorption
hsa04961  Endocrine and other factor-regulated calcium reabsorption
hsa04964  Proximal tubule bicarbonate reclamation
Gene
(AHC1) ATP1A2 [HSA:477] [KO:K01539]
(AHC2) ATP1A3 [HSA:478] [KO:K01539]
Comment
Hemiplegic migraine (H00775) and alternating hemiplegia of childhood (AHC) share some clinical features.
Other DBs
ICD-11: MB53.0
ICD-10: G98
MeSH: C536589
OMIM: 104290 614820
Reference
PMID:8496742
  Authors
Bourgeois M, Aicardi J, Goutieres F
  Title
Alternating hemiplegia of childhood.
  Journal
J Pediatr 122:673-9 (1993)
DOI:10.1016/S0022-3476(06)80003-X
Reference
PMID:17880649 (description, drug, env_factor)
  Authors
Neville BG, Ninan M
  Title
The treatment and management of alternating hemiplegia of childhood.
  Journal
Dev Med Child Neurol 49:777-80 (2007)
DOI:10.1111/j.1469-8749.2007.00777.x
Reference
  Authors
Bassi MT, Bresolin N, Tonelli A, Nazos K, Crippa F, Baschirotto C, Zucca C, Bersano A, Dolcetta D, Boneschi FM, Barone V, Casari G
  Title
A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood.
  Journal
J Med Genet 41:621-8 (2004)
DOI:10.1136/jmg.2003.017863
Reference
  Authors
Kanavakis E, Xaidara A, Papathanasiou-Klontza D, Papadimitriou A, Velentza S, Youroukos S
  Title
Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait.
  Journal
Dev Med Child Neurol 45:833-6 (2003)
DOI:10.1111/j.1469-8749.2003.tb00899.x
Reference
  Authors
de Vries B, Stam AH, Beker F, van den Maagdenberg AM, Vanmolkot KR, Laan L, Ginjaar IB, Frants RR, Lauffer H, Haan J, Haas JP, Terwindt GM, Ferrari MD
  Title
CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.
  Journal
Cephalalgia 28:887-91 (2008)
DOI:10.1111/j.1468-2982.2008.01596.x
Reference
  Authors
Rosewich H, Thiele H, Ohlenbusch A, Maschke U, Altmuller J, Frommolt P, Zirn B, Ebinger F, Siemes H, Nurnberg P, Brockmann K, Gartner J
  Title
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.
  Journal
Lancet Neurol 11:764-73 (2012)
DOI:10.1016/S1474-4422(12)70182-5
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