The Phenotypic Continuum of <i>ATP1A3</i> -Related Disorders

The Phenotypic Continuum of <i>ATP1A3</i> -Related Disorders

ATP1A3 is associated with a broad spectrum of predominantly neurological disorders, that continues to expand beyond the initially defined phenotypes of Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, Senso...

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Hlavní autoři: Aikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, Saskia Koene, Catherine A. Brownstein, Muriel Holder‐Espinasse, Andrew E. Fry, Andrea H. Németh, George K. Tofaris, Eleanor Hay, Imelda Hughes, Sahar Mansour, Santosh Mordekar, Miranda Splitt, Peter D. Turnpenny, D.Z. Demetriou, Tamara T. Koopmann, Claudia Ruivenkamp, Pankaj B. Agrawal, Lucinda Carr, Virginia Clowes, Neeti Ghali, Susan Holder, Jessica A. Radley, Alison Male, Sanjay M. Sisodiya, Manju A. Kurian, J. Helen Cross, Meena Balasubramanian
Médium: Revisão
Jazyk:angličtina
Vydáno: 2022
On-line přístup:https://doi.org/10.1212/wnl.0000000000200927
https://n.neurology.org/content/neurology/99/14/e1511.full.pdf
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https://doi.org/10.1212/wnl.0000000000200927
https://n.neurology.org/content/neurology/99/14/e1511.full.pdf

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