Article
De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.
BMC neurology - 15 Sept 2016
Kanemasa Hikaru, Fukai Ryoko, Sakai Yasunari, Torio Michiko, Miyake Noriko, Lee Sooyoung, Ono Hiroaki, Akamine Satoshi, Nishiyama Kei, Sanefuji Masafumi, Ishizaki Yoshito, Torisu Hiroyuki, Saitsu Hirotomo, Matsumoto Naomichi, Hara Toshiro
Abstract excerpt
BACKGROUND: Alternating hemiplegia of childhood (AHC) is a rare neurological disorder that manifests recurrent attacks of hemiplegia, oculogyric, and choreoathetotic involuntary movements. De novo mutations in ATP1A3 cause three types of neurological diseases: AHC; rapid-onset dystonia-Parkinsonism (RDP); and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndromes....
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