[HTML][HTML] Myoclonus and other jerky movement disorders
S van der Veen, JN Caviness, YEM Dreissen… - Clinical neurophysiology …, 2022 - Elsevier
Myoclonus and other jerky movements form a large heterogeneous group of disorders.
Clinical neurophysiology studies can have an important contribution to support diagnosis …
Clinical neurophysiology studies can have an important contribution to support diagnosis …
Hereditary hyperekplexia: a new family and a systematic review of GLRA1 gene-related phenotypes
E Ferraroli, M Perulli, C Veredice, I Contaldo… - Pediatric Neurology, 2022 - Elsevier
Hereditary hyperekplexia (HPX) is a genetic neurodevelopmental disorder recently defined
by the triad of (1) neonatal hypertonia,(2) excessive startle reflexes, and (3) generalized …
by the triad of (1) neonatal hypertonia,(2) excessive startle reflexes, and (3) generalized …
[PDF][PDF] Neurophysiological Analysis of Cortical Myoclonic Tremor and Excessive Startle in ARHGEF9 Deficiency
L Pollini, C Greco, M Novelli, D Mei… - Movement Disorders …, 2024 - research.rug.nl
Jerky movements are a heterogeneous group of rapid and involuntary hyperkinetic
movement disorders that include myoclonus, startle, and tics. 1 Because of their nature …
movement disorders that include myoclonus, startle, and tics. 1 Because of their nature …
Ligand-gated ion channels in genetic disorders and the question of efficacy
NL Absalom, VW Liao, M Chebib - … Journal of Biochemistry & Cell Biology, 2020 - Elsevier
Whole-genome sequencing has unearthed a substantial number of individual variants in ion
channels associated with genetic disorders. Ligand-gated ion channels, including glycine, γ …
channels associated with genetic disorders. Ligand-gated ion channels, including glycine, γ …