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Methodology of a Natural History Study of a Rare Neurodevelopmental Disorder: Alternating Hemiplegia of Childhood as a Prototype Disease

Archive ouverte | Patel, Shital | CCSD

International audience. Here, we describe the process of development of the methodology for an international multicenter natural history study of alternating hemiplegia of childhood as a prototype disease for rare n...

ATP1A3 Variants, Variably Penetrant Short QT Intervals, and Lethal Ventricular Arrhythmias

Archive ouverte | Moya-Mendez, Mary | CCSD

International audience. Importance Alternating hemiplegia of childhood (AHC) is a disorder that can result from pathogenic variants in ATP1A3 -encoded sodium-potassium adenosine triphosphatase alpha 3 (ATP1A3). Whil...

Alternating hemiplegia of childhood: evolution over time and mouse model corroboration

Archive ouverte | Uchitel, Julie | CCSD

International audience. Abstract Alternating hemiplegia of childhood is a rare neurodevelopmental disorder caused by ATP1A3 mutations. Some evidence for disease progression exists, but there are few systematic analy...

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