Acute movement disorders in Tunisian childhood
Objective: To describe clinical, imaging and therapeutic features in 80 children with acute movement disorders. Background: Acute movement disorders are usually misdiagnosed in childhood. Our…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…MRI abnormalities and EEG patterns of symptomatic epilepsy in children with cerebral palsy
Objective: Objective of the study was to investigate the neuroradiological, neurophysiological and morphological characteristics of symptomatic epilepsy in children with cerebral palsy. Background: Cerebral palsy…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…Long-term results of pallidal deep brain stimulation in a cohort of eight children with isolated dystonia assessed by blinded video rating
Objective: We present long-term results up to 13 years in a consecutive series of 8 pediatric patients assessed with blinded video rating. Background: : The…Psychogenic gait disorders in children – Report of 2 cases
Objective: To present 2 cases of psychogenic gait disorder in children. Background: Psychogenic movement disorders are up to almost 5 % of patients presenting at…Incidence and etiologies of pediatric asterixis
Objective: To retrospectively examine the incidence and etiologies of asterixis in children evaluated at a tertiary care pediatric hospital. Background: Asterixis (negative myoclonus) is associated…Results of the German registry of pediatric deep brain stimulation in patients with childhood-onset dyskinetic movement disorders (GEPESTIM)
Objective: We seek to systematically evaluate the clinical outcome of pediatric patients undergoing DBS at different stages of development. Background: Data on pediatric deep brain…Novel mutations identified in dopamine transporter deficiency syndrome
Objective: We aim to describe clinical phenotype, genotype and functional studies in a new cohort patients identified with Dopamine Transporter deficiency syndrome (DTDS). Background: Dopamine…Clinical course and treatment of 6 children with GNAO1 mutations causing a severe, life-threatening chorea
Objective: We describe the clinical course of 6 patients with de novo GNAO1 mutations with severe chorea, developmental delay and hypotonia, but the absence of…