This comprehensive MDSGene review is devoted to 7 genes—TOR1A, THAP1, GNAL,
ANO3, PRKRA, KMT2B, and HPCA—mutations in which may cause isolated dystonia. It …

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 …

Background Most reported patients carrying GNAO1 mutations showed a severe phenotype
characterized by early‐onset epileptic encephalopathy and/or chorea. Objective The aim …

Heterozygous mutations in KMT2B are associated with an early-onset, progressive and
often complex dystonia (DYT28). Key characteristics of typical disease include focal motor …

Objective The study was undertaken to identify a monogenic cause of early onset,
generalized dystonia. Methods Methods consisted of genome‐wide linkage analysis, exome …

GNAO1 encephalopathy characterized by a wide spectrum of neurological deficiencies in
pediatric patients originates from de novo heterozygous mutations in the gene encoding …

Abstract Purpose of Review Since the advent of next-generation sequencing, the number of
genes associated with dystonia has been growing exponentially. We provide here a …

Dystonia is a clinically, genetically, and biologically heterogeneous hyperkinetic movement
disorder caused by the dysfunctional activity of neural circuits involved in motor control. Our …

Background Dystonia is a clinically and genetically heterogeneous movement disorder
characterized by sustained or intermittent muscle contractions causing abnormal, often …

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 …