エントリ 名称 小児交互性片麻痺
概要 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.
カテゴリ 神経系疾患
階層分類 ICD-11 による疾患分類 [BR:jp08403 ] BRITE hierarchy パスウェイ hsa04919 Thyroid hormone signaling pathway
hsa04925 Aldosterone synthesis and secretion
hsa04961 Endocrine and other factor-regulated calcium reabsorption
病因遺伝子 コメント Hemiplegic migraine (
H00775 ) and alternating hemiplegia of childhood (AHC) share some clinical features.
リンク 文献 著者 Bourgeois M, Aicardi J, Goutieres F
タイトル Alternating hemiplegia of childhood.
雑誌 文献 著者 Neville BG, Ninan M
タイトル The treatment and management of alternating hemiplegia of childhood.
雑誌 文献 著者 Bassi MT, Bresolin N, Tonelli A, Nazos K, Crippa F, Baschirotto C, Zucca C, Bersano A, Dolcetta D, Boneschi FM, Barone V, Casari G
タイトル A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood.
雑誌 文献 著者 Kanavakis E, Xaidara A, Papathanasiou-Klontza D, Papadimitriou A, Velentza S, Youroukos S
タイトル Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait.
雑誌 文献 著者 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
タイトル CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.
雑誌 文献 著者 Rosewich H, Thiele H, Ohlenbusch A, Maschke U, Altmuller J, Frommolt P, Zirn B, Ebinger F, Siemes H, Nurnberg P, Brockmann K, Gartner J
タイトル Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.
雑誌 LinkDB All DBs
