Phenotypic insights into ADCY5-associated disease
Objective: We provide detailed clinical data on seven patients from six new kindreds with mutations in the ADCY5 gene, in order to expand and define…Dystonia, myoclonus, and tremor without epilepsy associated with a mutation in STXBP1
Objective: Describe a presentation of abnormal movements associated with a mutation in STXBP1. Background: STXBP1, or the syntaxin binding protein 1 gene, is involved in…ADCY5 screening in paediatric-onset hyperkinetic movement disorders: Report of three new Italian families
Objective: To report three new cases with pathogenic ADCY5 mutations and describe their clinical phenotype. Background: ADCY5 is a recently identified gene responsible for a…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.