Results 21 to 30 of about 2,643 (194)

Smiling Tremor in a Patient with Essential Tremor. [PDF]

Mov Disord Clin Pract
Movement Disorders Clinical Practice, Volume 13, Issue 2, Page 560-562, February 2026.
Chen JC, Grippe T, Mahjoub Y, Kleiner G, Chen R.   +4 more
europepmc   +2 more sources

Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel

Biomedicines, 2021
The KCNA1 gene encodes the α subunit of the voltage-gated Kv1.1 potassium channel that critically regulates neuronal excitability in the central and peripheral nervous systems. Mutations in KCNA1 have been classically associated with episodic ataxia type
Paola Imbrici, Andrea Accogli, Rikard Blunck, Concetta Altamura, Michele Iacomino, Maria Cristina D’Adamo, Anna Allegri, Marina Pedemonte, Noemi Brolatti, Stella Vari, Matteo Cataldi, Valeria Capra, Stefano Gustincich, Federico Zara, Jean-Francois Desaphy, Chiara Fiorillo   +15 more
doaj   +1 more source

When muscle quivers and undulates

Clinical Case Reports, 2022
We describe a patient who presented with fatigue and pulling sensation in his lower limbs. He had continuous muscle contractions over his trunk (myokymia) which pointed towards the diagnosis of Isaacs syndrome which was confirmed by strongly positive ...
Alex Rebello, Mohd Asif, Kumbha Dhanusha, Bandi Haritha, Nangadda Narmada, Ram Chandra Poudel   +5 more
doaj   +1 more source

Sustained atypical myokymia of the abductor pollicis brevis with a focal slowing of the median nerve motor axons at the wrist

Clinical Neurophysiology Practice, 2021
Objective: We report a case of sustained atypical myokymia associated with short bursts of neuromyotonic discharges involving the abductor pollicis brevis (APB) muscle and describe a useful way of detecting a focal slowing involving a small number of ...
Nagako Murase, Masahiro Goto, Nobuo Kohara, Jun Kimura   +3 more
doaj   +1 more source

Painful myokymia after surgery in a patient with Isaacs’ syndrome: a case report

JA Clinical Reports, 2020
Background Isaacs’ syndrome is a peripheral nerve hyperexcitability syndrome and rare acquired channel disease. The symptoms (myokymia, neuromyotonia, and muscle spasm) emerge even during sleep. This report describes the anesthetic management, especially
Hiroai Okutani, Yukari Okano, Munetaka Hirose   +2 more
doaj   +1 more source

International veterinary canine dyskinesia task force ECVN consensus statement: Terminology and classification

Journal of Veterinary Internal Medicine, 2021
Movement disorders are a heterogeneous group of clinical syndromes in humans and animals characterized by involuntary movements without changes in consciousness.
Sofia Cerda‐Gonzalez, Rebecca A. Packer, Laurent Garosi, Mark Lowrie, Paul J. J. Mandigers, Dennis P. O'Brien, Holger A. Volk   +6 more
doaj   +1 more source

Facial Myokymia in the Guillain-Barre Syndrome [PDF]

, 1977
Facial myokymia, a unique involuntary movement of facial muscles, is described in a patient with Guillain-Barré syndrome. Although this involuntary movement is most often described with intramedullary lesions of the brain stem, it may also appear with ...
A. Starr, Starr, Arnold, Wasserstrom, William R, W. R. Wasserstrom   +3 more
core   +1 more source

A Homozygous KCNJ10 Mutation in Jack Russell Terriers and Related Breeds with Spinocerebellar Ataxia with Myokymia, Seizures, or Both

Journal of Veterinary Internal Medicine, 2014
Background Juvenile‐onset spinocerebellar ataxia has been recognized in Jack Russell Terriers and related Russell group terriers (RGTs) for over 40 years.
D. Gilliam, D.P. O'Brien, J.R. Coates, G.S. Johnson, G.C. Johnson, T. Mhlanga‐Mutangadura, L. Hansen, J.F. Taylor, R.D. Schnabel   +8 more
doaj   +1 more source

Identification of a New de Novo Mutation Underlying Regressive Episodic Ataxia Type I

Frontiers in Neurology, 2018
Episodic ataxia type 1 (EA1), a Shaker-like K+channelopathy, is a consequence of genetic anomalies in the KCNA1 gene that lead to dysfunctions in the voltage-gated K+ channel Kv1. 1.
Zeynep S. Karalok, Alfredo Megaro, Marta Cenciarini, Alev Guven, Sonia M. Hasan, Birce D. Taskin, Paola Imbrici, Serdar Ceylaner, Mauro Pessia, Mauro Pessia, Maria C. D'Adamo   +10 more
doaj   +1 more source

Morvan syndrome associated with LGI1 antibody: a case report

BMC Neurology, 2021
Background Morvan syndrome (MoS) is a rare autoimmune syndrome associated with antibodies against two kinds of potassium channel proteins, contactin associated protein-like 2 (CASPR2) and leucine-rich glioma inactivated protein 1 (LGI1).
Shui-Jing Zhang, Yan-Yan Xue, Hao Yu, Qing-Qing Tao   +3 more
doaj   +1 more source