KEGG DISEASE: Alternating hemiplegia of childhood

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 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

Thyroid hormone signaling pathway

Mineral absorption

Insulin secretion

Gastric acid secretion

Cardiac muscle contraction

Aldosterone synthesis and secretion

Endocrine and other factor-regulated calcium reabsorption

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:

MeSH:

OMIM:

Reference

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

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

LinkDB

» Japanese version

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