Electrophysiological functional studies of an ATP1A3 variant in an individual with a relatively mild neurological phenotype reveal loss of function
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Presenting Author - Chetan Immanneni, BA; Co-Author - Song Jiao, PhD; Co-Author - Daniel Calame, MD PhD; Co-Author - Lisa T. Emrick, MD; Co-Author - Miguel Holmgren, PhD; Co-Author - Sho T. Yano, MD, PhD;
Meta Tag
Brain/Nervous System
Delineation of Diseases
Genotype-Phenotype Correlations
Molecular Pathophysiology
Co-Author Song Jiao, PhD
Co-Author Daniel Calame, MD PhD
Co-Author Lisa T. Emrick, MD
Co-Author Miguel Holmgren, PhD
Co-Author Sho T. Yano, MD, PhD
Presenting Author Chetan Immanneni, BA
Keywords
4-year-old boy
weakness
encephalopathy
speech regression
hand tremors
ATP1A3 variant
genetic testing
ion transport activity
cell surface
neurological phenotypes

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