| H00998 | |
| H number | H00998 |
| 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 |
| Network | - |
| Gene | (AHC1) ATP1A2 [HSA:477] [KO:K01539] (AHC2) ATP1A3 [HSA:478] [KO:K01539] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| 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 PMID:17880649 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 PMID:15286158 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 PMID:14667076 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 PMID:18498393 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 PMID:22850527 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 |