Early-Onset Hyperkinetic Movement Disorders Define the Most Severe Presentation of the ATP8A2-Related Phenotypic Spectrum.

Abstract excerpt

Variants in ATP8A2 gene have been traditionally associated with cerebellar ataxia, mental retardation and disequilibrium syndrome type 4 (CAMRQ4). However, this nomenclature fails to capture the predominantly extrapyramidal and encephalopathic nature of the most severe presentation of the ATP8A2-related phenotypic spectrum. We report two siblings with a novel homozygous ATP8A2 frameshift variant...

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• Adenosine Triphosphatases
• Hyperkinesis
• Movement Disorders
• Phenotype
• Phospholipid Transfer Proteins