Childhood‐Onset Choreo‐Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review
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DOI: 10.1002/mdc3.13529
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… read more here.
Keywords: dystonia due; onset choreo; childhood onset; dystonia ... See more keywords
Genotype–Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review
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DOI: 10.1002/mds.28485
Abstract: This comprehensive MDSGene review is devoted to 7 genes — TOR1A, THAP1, GNAL, ANO3, PRKRA, KMT2B, and HPCA — mutations in which may cause isolated dystonia. It followed MDSGene's standardized data extraction protocol and screened… read more here.
Keywords: mutation carriers; hpca; dystonia; isolated dystonia ... See more keywords