Pallidal deep brain stimulation for monogenic dystonia: the effect of gene on outcome
Globus pallidus internus deep brain stimulation (GPi DBS) is the most effective intervention
for medically refractory segmental and generalized dystonia in both children and adults …
for medically refractory segmental and generalized dystonia in both children and adults …
Deep brain stimulation for refractory status dystonicus in children: multicenter case series and systematic review
LM Vogt, H Yan, B Santyr, S Breitbart… - Annals of …, 2024 - Wiley Online Library
Objective We sought to better understand the workflow, outcomes, and complications of
deep brain stimulation (DBS) for pediatric status dystonicus (SD). We present a systematic …
deep brain stimulation (DBS) for pediatric status dystonicus (SD). We present a systematic …
Highlighting the Dystonic Phenotype Related to GNAO1
Background Most reported patients carrying GNAO1 mutations showed a severe phenotype
characterized by early‐onset epileptic encephalopathy and/or chorea. Objective The aim …
characterized by early‐onset epileptic encephalopathy and/or chorea. Objective The aim …
Deep brain stimulation in dystonia: factors contributing to variability in outcome in short and long term follow-up
S Tisch - Current Opinion in Neurology, 2022 - journals.lww.com
Deep brain stimulation in dystonia: factors contributing to... : Current Opinion in Neurology
Deep brain stimulation in dystonia: factors contributing to variability in outcome in short and …
Deep brain stimulation in dystonia: factors contributing to variability in outcome in short and …
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset
Dystonia is a prevalent, heterogeneous movement disorder characterized by involuntarily
abnormal postures. Biomarkers of dystonia are notoriously lacking. Here, a biomarker is …
abnormal postures. Biomarkers of dystonia are notoriously lacking. Here, a biomarker is …
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile
A Ciolfi, A Foroutan, A Capuano, L Pedace… - Clinical …, 2021 - Springer
Background Dystonia is a clinically and genetically heterogeneous movement disorder
characterized by sustained or intermittent muscle contractions causing abnormal, often …
characterized by sustained or intermittent muscle contractions causing abnormal, often …
Genetic screening of a Hungarian cohort with focal dystonia identified several novel putative pathogenic gene variants
A Salamon, ZF Nagy, M Pál, M Szabó, Á Csősz… - International Journal of …, 2023 - mdpi.com
Dystonia is a rare movement disorder which is characterized by sustained or intermittent
muscle contractions causing abnormal and often repetitive movements, postures, or both …
muscle contractions causing abnormal and often repetitive movements, postures, or both …
Dystonia
Dystonia is a common movement disorder involving abnormal, often twisting postures and is
a challenging condition to diagnose as we present here in a comprehensive overview. The …
a challenging condition to diagnose as we present here in a comprehensive overview. The …
GPi‐DBS for KMT2B‐Associated Dystonia: Systematic Review and Meta‐Analysis
Background Early evidence suggests good response to pallidal deep brain stimulation
(DBS) in DYT‐KMT2B. Objectives We aimed to conduct a systematic review and meta …
(DBS) in DYT‐KMT2B. Objectives We aimed to conduct a systematic review and meta …
Long-term outcomes of deep brain stimulation for pediatric dystonia
C Malatt, M Tagliati - Pediatric Neurosurgery, 2022 - karger.com
Background: Deep brain stimulation (DBS) has been utilized for over two decades to treat
medication-refractory dystonia in children. Short-term benefit has been demonstrated for …
medication-refractory dystonia in children. Short-term benefit has been demonstrated for …