Persistent myoclonic dystonia due to SCL2A1 mutation
Objective: We present a young woman with myoclonic dystonia due to a novel mutation in SCL2A1 gene. Background: Mutations in the SCL2A1 gene can cause…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.