Childhood-Onset Choreo-Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review.
Francesca MagrinelliKailash P BhatiaMehran Beiraghi ToosiFatemeh ArabEhsan Ghayoor KarimianiSahar SedighzadehBehnaz AnsariMaedeh NeshatdoustClarissa RoccaHenry HouldenReza MaroofianPublished in: Movement disorders clinical practice (2022)
might be a mutational hotspot.