Results 91 to 100 of about 53,170 (302)

Epilepsy‐associated SCN2A‐L1342P mutation drives network hyperexcitability and widespread transcriptomic changes in human cortical organoids

Epilepsia, EarlyView.
Abstract Objective SCN2A pathogenic mutations, such as the recurrent heterozygous Nav1.2‐L1342P, are monogenic causes of epilepsy. In this human‐induced pluripotent stem cell–derived model system, we aim to investigate the molecular and cellular mechanisms underlying SCN2A‐L1342P‐associated pathology. Methods Using a human male induced pluripotent stem
Maria I. Olivero‐Acosta, Morgan Robinson, Zhefu Que, Zaiyang Zhang, Karen V. Salazar‐Salazar, Hope Elizabeth Harlow, Vinayak Shankar, Seoyeon Hong, Muhan Wang, Conrad M. Otterbacher, Hina Kadono, Manasi Halurkar, Harish Kothandaraman, Nadia Atallah Lanman, Trang Nguyen, Kyle Wettschurack, Benjamin Zirkle, Layan Yunis, Ningren Cui, Xiaoling Chen, Jingliang Zhang, Jiaxiang Wu, William C. Skarnes, Chongli Yuan, Feng Guo, Megan Abbott, Yang Yang   +26 more
wiley   +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

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

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

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

Psychiatric disorders in primary focal dystonia and in Parkinson’s disease [PDF]

, 2011
Fernando MV Dias1, Arthur Kummer1, Flávia CP Doyle2, Estefânia Harsányi1, Francisco Cardoso2, Leonardo F Fontenelle3, Antônio Lúcio Teixeira11Neuropsychiatric Branch, 2Movement Disorders Clinic ...
et al, Flávia CP Doyle, Fernando MV Dias, Arthur Kummer   +3 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

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

Neuropathology of Dystonia [PDF]

, 2019
Background: Dystonia is characterized by sustained or intermittent muscle contractions resulting in abnormal, often repetitive, movements, postures, or both.
Sharma, Nutan, Nutan Sharma
core   +2 more sources

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