TY - JOUR AU - Kanemasa, Hikaru AU - Fukai, Ryoko AU - Sakai, Yasunari AU - Torio, Michiko AU - Miyake, Noriko AU - Lee, Sooyoung AU - Ono, Hiroaki AU - Akamine, Satoshi AU - Nishiyama, Kei AU - Sanefuji, Masafumi AU - Ishizaki, Yoshito AU - Torisu, Hiroyuki AU - Saitsu, Hirotomo AU - Matsumoto, Naomichi AU - Hara, Toshiro PY - 2016 DA - 2016/09/15 TI - De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis JO - BMC Neurology SP - 174 VL - 16 IS - 1 AB - 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. It remains to be determined whether or not a rare mutation in ATP1A3 may cause atypical phenotypes. SN - 1471-2377 UR - https://doi.org/10.1186/s12883-016-0680-6 DO - 10.1186/s12883-016-0680-6 ID - Kanemasa2016 ER -