Results 91 to 100 of about 19,586 (243)

Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract In a clinical setting, exome sequencing (ES) with copy number variant (CNV) analysis is currently the most effective approach for developmental and epileptic encephalopathies (DEE). However, trio‐based ES is often not feasible in adults, its costs remain prohibitive in certain health care settings, and computational tools for CNV calling still
Laura Licchetta, Giulia Bruschi, Tania Giangregorio, Carlotta Stipa, Elisa Mannini, Raffaella Minardi, Barbara Mostacci, Valentina Tontini, Tommaso Pippucci, Francesca Bisulli, Pamela Magini   +10 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

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

Validation of a torsinA cerebellar knockdown model of DYT1 dystonia

Dystonia
Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both.
Yuning Liu, Yuning Liu, Hong Xing, Fumiaki Yokoi, Ariel Luz Walker, Duo Chen, Edgardo Rodriguez-Lebron, Yuqing Li   +7 more
doaj   +1 more source

Sexual dysfunction in cervical dystonia and blepharospasm

, 2018
M Marek,1 M Grobe-Einsler,1 JR Bedarf,1 B Wabbels,2 S Paus1 1Department of Neurology, University of Bonn, Bonn, Germany; 2Department of Ophthalmology, University of Bonn, Bonn, Germany Background: Sexual dysfunction is a frequent, yet underrated ...
Bedarf JR, Paus S, Wabbels B, Marek M, Grobe-Einsler M   +4 more
core  

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

EEG findings in SERAC1‐related MEGD(H)EL syndrome

Epileptic Disorders, EarlyView.
Apurva Patel, Dalila Lewis, Thomas Koch
wiley   +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