De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis

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作者：
Hikaru Kanemasa
Ryoko Fukai
Yasunari Sakai
Michiko Torio
Noriko Miyake
Sooyoung Lee
Hiroaki Ono
Satoshi Akamine
Kei Nishiyama
Masafumi Sanefuji
Yoshito Ishizaki
Hiroyuki Torisu
Hirotomo Saitsu
Naomichi Matsumoto
Toshiro Hara
机构：
[1] Kyushu University,Department of Pediatrics, Graduate School of Medical Sciences
[2] Yokohama City University School of Medicine,Department of Human Genetics
[3] Present address: Fukuoka Children’s Hospital,Present address: Section of Pediatrics, Department of Medicine
[4] Fukuoka Dental College,Present address: Department of Biochemistry
[5] Hamamatsu University School of Medicine,undefined
来源：
BMC Neurology | / 16卷
关键词：
Alternating hemiplegia of childhood; Rapid-onset dystonia-Parkinsonism; Areflexia; Optic atrophy and sensorineural hearing loss; Whole-exome sequencing; ATP1A3;
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