Results 101 to 110 of about 79,478 (306)

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

Costs of Parkinson's Disease and Antiparkinsonian Pharmacotherapy: An Italian Cohort Study [PDF]

, 2010
Objective: Antiparkinsonian pharmacotherapy is costly and the determinants of drug costs in Parkinson's disease (PD) have been poorly investigated. The objective of this study was to investigate the costs of PD and antiparkinsonian drugs in an Italian ...
Balzer-Geldsetzer, Monika, Barone, Paolo, Bötzel, Kai, Campenhausen, Sonja von, Dodel, Richard, Eggert, Karla, Longo, Katia, Oertel, Wolfgang H., Reese, Jens P., Spiga, Giuseppe, Winter, Yaroslav   +10 more
core   +1 more source

Treating non-motor symptoms in dystonia: a systematic review

Dystonia
IntroductionDystonia is characterized by dysfunctional movements and postures and current treatments aim to reduce unwanted muscle activity. Dystonia also encompasses non-motor symptoms which are becoming increasingly recognized as important contributors
Dana Sugar, Sarah Pirio Richardson
doaj   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

Altered functional brain connectivity in Dyt1 knock-in mouse models

Dystonia
DYT1 dystonia is an early onset, generalized form of isolated dystonia characterized by sustained involuntary muscle co-contraction, leading to abnormal movements and postures.
R. Z. Adury, B. J. Wilkes, P. Girdhar, Y. Li, D. E. Vaillancourt, D. E. Vaillancourt, D. E. Vaillancourt   +6 more
doaj   +1 more source

Detection of focal impaired awareness seizures using a biometric shirt

Epilepsia Open, EarlyView.
Abstract Objective In recent years, seizure detection using wearable technology has gained significant attention in research. Most studies, however, have focused on detecting generalized or focal to bilateral tonic–clonic seizures. This study evaluates the feasibility of using a biometric shirt to detect focal impaired awareness seizures (FIAS) by ...
Jérôme St‐Jean, Oumayma Gharbi, Dènahin Hinnoutondji Toffa, Thi Phuoc Yen Tran, Manon Robert, Dang Khoa Nguyen, Elie Bou Assi   +6 more
wiley   +1 more source

Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy. [PDF]

, 2019
COX20/FAM36A encodes a mitochondrial complex IV assembly factor important for COX2 activation. Only one homozygous COX20 missense mutation has been previously described in two separate consanguineous families.
Adams, David, Au, Margaret G, Bai, Renkui, Buckley, David J, Collier, Ashley, Cui, Hong, Diaz, Frank, Gahl, William, Graham, John M, Haude, Katrina, Kim, Jaemin, Lewis, Richard, Mathews, Katherine D, Millian Zamora, Francisca, Otero, Maria G, Panzer, Karin, Pierson, Tyler Mark, Tifft, Cynthia J, Tiongson, Emmanuelle, Toro, Camilo, Turner, Lesley   +20 more
core  

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

Epilepsy surgery: From bench to the clinics

Epilepsia Open, EarlyView.
Abstract Objective Recent advances in epilepsy surgery in patients with intractable epilepsy make it possible to study the mechanism of epilepsy in human brains. However, the true extent and propagation of each epileptogenic area from the epileptogenic focus in each patient is still difficult to perform “epilepsy cure” by surgery.
Tatsuya Tanaka
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