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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5025569/
https://www.ncbi.nlm.nih.gov/pubmed/27634470
http://dx.doi.org/10.1186/s12883-016-0680-6

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