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Biallelic variants in HPCA were linked to isolated dystonia (formerly DYT2) in 2015. Since then, the clinical spectrum of HPCA‐related disorder has expanded up to including a complex syndrome encompassing… Click to show full abstract
Biallelic variants in HPCA were linked to isolated dystonia (formerly DYT2) in 2015. Since then, the clinical spectrum of HPCA‐related disorder has expanded up to including a complex syndrome encompassing neurodevelopmental delay, generalized dystonia with bulbar involvement, and infantile seizures.
Keywords:
dystonia due;
onset choreo;
childhood onset;
dystonia;
hpca;
choreo dystonia
Journal Title: Movement Disorders Clinical Practice
Year Published: 2022
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Journal Title: Movement Disorders Clinical Practice
Year Published: 2022
Link to full text (if available)
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recommendations!