Results 91 to 100 of about 26,795 (236)

Cannabidiol reduces atypical absence seizures and epileptic spasms in a Gabrb3+/D120N mouse model of Lennox–Gastaut syndrome

Epilepsia Open, EarlyView.
Abstract Objective Lennox–Gastaut syndrome (LGS) is a drug‐resistant developmental and epileptic encephalopathy (DEE). Preclinical drug development for LGS is constrained by a lack of syndrome‐relevant animal models. We aimed to evaluate a Gabrb3+/D120N knock‐in (KI) mouse model of LGS by quantifying atypical absence seizures and epileptic spasms and ...
Thomas Harman, Laura A. Sharman, Ka Lai Yip, Miguel Bedoya‐Pérez, Vaishali Janve, Jonathon C. Arnold   +5 more
wiley   +1 more source

Differentiating Myoclonus from Tics

, 2000
A Myoclonus Versus Tic Checklist facilitates making this vexing differential diagnosis. Although it appears to be a valuable tool for clinical, educational, and research purposes, psychometric characterization of the Myoclonus Versus Tic Checklist is ...
James Robert Brasić
core   +1 more source

Smartphone videos for infantile epileptic spasms triaging and assessment (VISTA study): Impact of education and standardized clinical history on diagnostic accuracy

Epilepsia Open, EarlyView.
Abstract Objective Diagnostic and treatment delays in infantile epileptic spasms syndrome (IESS) increase the risk of poor neurodevelopmental outcomes. Early clinical recognition of IESS is essential, especially in regions lacking expedited access to electroencephalograms (EEG).
Christine L. Shrock, Margaret C. Savage, Lauren Sham, Christopher Cortina, Kathryn P. Gray, I‐Hsiu Lee, Chahnez C. Triki, Jacqueline French, J. Helen Cross, Orrin Devinsky, Jo M. Wilmshurst, Archana A. Patel   +11 more
wiley   +1 more source

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

, 2012
The progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically heterogeneous disorders characterised by myoclonus, epilepsy, and neurological deterioration.
Anttila, Verneri, Kopra, Outi, Liisa Myllykangas, Erik Riesch, Alber, Michael Wolfgang Hans-Peter, Kousi, Maria, Riesch, Erik, Eveliina Jakkula, Sarenur Gökben, Verneri Anttila, Johannes R Lemke, Maria Kousi, Lehesjoki, Anna-Elina, Schulz, Angela, Angela Schulz, Michael Alber, Outi Kopra, Anna-Elina Lehesjoki, Calafato, Stella, Aarno Palotie, Stella Calafato, Fusun Alehan, Palotie, Aarno, Jakkula, Eveliina, Alber, Michael, Hannu Kalimo, Gökben, Sarenur, Topçu, Meral, Meral Topçu, Lemke, Johannes R., Kalimo, Hannu, Myllykangas, Liisa, Alehan, Fusun, Lemke, Johannes R   +33 more
core   +1 more source

The causal relationship between systemic lupus erythematosus and juvenile myoclonic epilepsy: A Mendelian randomization study and mediation analysis

Ibrain, Volume 11, Issue 1, Page 98-105, Spring 2025.
Mendelian randomization (MR) studies were conducted using the inverse‐variance weighted (IVW) method, MR‐Egger and weighted median on juvenile myoclonic epilepsy (JME), and systemic lupus erythematosus (SLE) data from the Integrative Epidemiology Unit (IEU) Open genome‐wide association study (GWAS) database and the International League Against Epilepsy
Sirui Chen, Ningning Zhang, Ruirui Zhang, Lan Zhang, Dadong Luo, Junqiang Li, Yaqing Liu, Yunan Wang, Xinyue Duan, Xin Tian, Tiancheng Wang   +10 more
wiley   +1 more source

Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes, Daniel G. Di Luca, Connie Marras, Erik Boot, Ryan K.C. Yuen, Anthony E. Lang, Anne S. Bassett   +6 more
wiley   +1 more source

Myoclonus.

, 1996
Physiological investigations continue to define the processes underlying different types of myoclonus, particularly cortical forms. Several new aetiologies have been described and genetic advances have revealed the basic deficit in familial ...
Brown, Peter, Brown, P
core   +1 more source

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan, Seyed‐Mohammad Fereshtehnejad, Christos Ganos, Emily Swinkin, Anthony E. Lang   +4 more
wiley   +1 more source

The myoclonus in corticobasal degeneration. Evidence for two forms of cortical reflex myoclonus.

, 1994
The clinical and physiological characteristics of myoclonus in 14 patients with corticobasal degeneration are described. The myoclonus was focal, confined to one limb (usually the arm) and was most prominent on voluntary action or in response to sensory ...
Day, BL, Brown, Peter, Marsden, CD, Thompson, PD, Britton, TC, Rothwell, JC   +5 more
core   +1 more source

Convergence Deficits in Myoclonus‐Dystonia Point to Cerebellar Impairment

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Myoclonus‐dystonia (M‐D) is a monogenic movement disorder, with proposed cerebellar dysfunction. Vergence eye movement deficits, characteristics of degenerative cerebellar disease, have not been studied in M‐D. Cerebellar transcranial alternating current stimulation (tACS) is considered a potential therapeutic approach.
Skadi Gerkensmeier, Christina Bolte, Jan‐Ole Radecke, Feline Hamami, Andreas Sprenger, Christoph Helmchen, Robert Chen, Marcus Callister, Talyta Cortez Grippe, Christine Klein, Norbert Brüggemann, Tobias Bäumer, Alexander Münchau, Anne Weissbach   +13 more
wiley   +1 more source