Results 101 to 110 of about 59,501 (281)

Oral medication treatment patterns in blepharospasm and Meige syndrome: a multi-institutional TriNetX study

Dystonia
BackgroundBlepharospasm (BSP) and Meige Syndrome (MeS) are focal dystonias frequently associated with disability and reduced quality of life. While botulinum neurotoxin is the standard of care treatment for these conditions, they only partially and ...
Rachel J. Heo, Nitai Mukhopadhyay, Caileigh Dintino, Ahmed Negida, Matthew J. Barrett, Brian D. Berman   +5 more
doaj   +1 more source

Programming of deep brain stimulation of the centromedian nucleus of the thalamus for drug‐resistant epilepsy: A meta‐analysis and proposed programming framework

Epilepsia, EarlyView.
Abstract Objective Although the centromedian nucleus of the thalamus (CM) is an increasingly considered deep brain stimulation (DBS) target for drug‐resistant epilepsy (DRE), there is significant variability in programming practices, which may contribute to heterogenous outcomes.
Mohammed A. AlQahtani, Michal Stern‐Zimmer, Puneet Jain, Suvasini Sharma, Alfonso Fasano, Alexander Rotenberg, George M. Ibrahim, Carolina Gorodetsky   +7 more
wiley   +1 more source

Motor priming induces changes in resting state dynamics in cerebellum of writer’s cramp dystonia: insights for clinical therapies

Dystonia
BackgroundWriter’s cramp (WC) is an adult-onset focal dystonia that impairs hand and arm movements during writing tasks. Previous studies have identified abnormal resting state connectivity between the basal ganglia and cerebellum in WC.
Patrick J. Mulcahey, Michael Fei, James T. Voyvodic, James T. Voyvodic, Michael W. Lutz, Noreen Bukhari-Parlakturk, Noreen Bukhari-Parlakturk   +6 more
doaj   +1 more source

Phenotypic and transcriptomic characterization of biallelic RNU2‐2 developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective A significant proportion of individuals with suspected genetic developmental and epileptic encephalopathies (DEEs) remain unsolved following whole genome sequencing (WGS). Here we describe biallelic RNU2‐2 variants causing a recently reported, severe, recessive DEE.
Olivia J. Henry, Nadja Pekkola Pacheco, Irene Duba, Magnus Burstedt, Daniel Carlberg, Angelica M. Delgado‐Vega, Anna Hammarsjö, Sofie Ivarsson, Tord Jonson, Kristina Karrman, Nicole Lesko, Åsa Lindfors, Daniel Nilsson, Mia Olsson Engman, Lucía Peña‐Pérez, Erik Stenund, Fulya Taylan, Malin Ueberschär, Samuel Wiafe, Sofia Ygberg, Anna Lindstrand, Anna Wedell, Ann Nordgren, Tommy Stödberg   +23 more
wiley   +1 more source

Neurorehabilitation in dystonia care: key questions of who benefits, what modalities, and when to intervene

Dystonia
Dystonia causes involuntary, patterned movements and posturing, often leading to disability, pain, and reduced quality-of-life. Despite standard treatments such as botulinum toxin (BoNT) injections, oral medications, and deep brain stimulation therapy ...
Hikaru Kamo, Hikaru Kamo, Koichi Nagaki, Koichi Nagaki, Alison R. Kraus, Lisa Warren, Aparna Wagle Shukla   +6 more
doaj   +1 more source

Functional profiling of STXBP1 missense variants using a novel dual‐readout fluorometric assay

Epilepsia, EarlyView.
Abstract Objective STXBP1‐related disorders (STXBP1‐RD) are among the most common genetic neurodevelopmental disorders, marked by early onset epilepsy, global developmental delay, and motor impairments. Many missense variants remain uncharacterized, limiting accurate variant interpretation and hindering development of precision therapies.
Elisa A. Waxman, Jennine M. Dawicki‐McKenna, Ian McSalley, Anna J. Prentice, Torrey A. Chisari, Sarah M. Ruggiero, Jillian L. McKee, Alex J. Felix, Giulia Pavani, Benjamin L. Prosser, Michael J. Boland, Ingo Helbig   +11 more
wiley   +1 more source

Association of abnormal explicit sense of agency with cerebellar impairment in myoclonus-dystonia

Non-motor aspects in dystonia are now well recognized. The sense of agency, which refers to the experience of controlling one's own actions, has been scarcely studied in dystonia, even though its disturbances can contribute to movement disorders.
Yulia Worbe (241028), Clément Tarrano (18421251), Eavan McGovern (10045739)   +2 more
core   +1 more source

A grounded theory of illness representation among musicians with embouchure dystonia/syndrome

Dystonia
Musician’s Task-Specific Focal Dystonia (MD) is a neurological disorder that disrupts highly trained performance-specific motor programs. Among brass and wind players, the embouchure subtype (Embouchure Dystonia, ED) affects the orofacial musculature ...
Maxwell Zywica, Gabriel Radford, Rachel Carmen Ceasar, Bronwen J. Ackermann, Xenos L. Mason   +4 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Defining the Clinical Phenotypic Ground Truth: Expert Interrater Agreement in Hyperkinetic Movement Disorders [PDF]

Mov Disord Clin Pract
Abstract Background Reliable clinical phenotyping is crucial for diagnosis, treatment, and research in hyperkinetic movement disorders, yet its interrater reliability remains uncertain. Objectives To quantify interrater agreement in clinical phenotyping of hyperkinetic movement disorders among experts in a large, phenotypically diverse cohort.
van der Stouwe M, Vermeulen O, Eggink W, Henriksen T, McGovern E, Smit M, Aybek S, Boon A, Brandsma R, Deik A, Erro R, Espay A, Falup‐Pecurariu C, Frucht S, Ganos C, Gatto E, Helmich R, Klein C, Koelman H, Odekerken V, Koens L, Mahajan A, Morgante F, Münchau A, Panyakaew P, Peall K, Pérez‐Dueñas B, Roze E, Sadnicka A, Schneider S, Schwingenschuh P, Serranova T, Skorvanek M, Stamelou M, Tamas G, Tinazzi M, Valadas A, Vandenberghe W, de Vries J, Zutt R, van der Veen S, Luiken R, Tuitert I, Tijssen M.   +43 more
europepmc   +2 more sources