Results 101 to 110 of about 2,080,423 (380)

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari   +12 more
wiley   +1 more source

An estimate of the prevalence of epilepsy in Sub-Saharan Africa:A systematic analysis [PDF]

, 2012
Epilepsy is a leading serious neurological condition worldwide and has particularly significant physical, economic and social consequences in Sub–Saharan Africa.
Adeloye, Davies, Chan, Kit Yee, George-Carey, Rhiannon, Grant, Elizabeth, Kolčić, Ivana, Paul, Abigail   +5 more
core   +3 more sources

Clinical Spectrum and Outcomes of SOX1 Antibody‐Associated Paraneoplastic Neurological Syndromes: A Chinese Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background SOX1 antibody‐positive paraneoplastic neurological syndromes (PNS) exhibit significant population‐specific clinical heterogeneity. While Western cohorts predominantly manifest Lambert‐Eaton myasthenic syndrome (65%–80%), comprehensive clinical characterization and treatment response data in Asian populations remain critically ...
Jin‐Long Ye, Zu‐Ying Kuang, Bo Li, Meng‐Qiu Pan, Li‐Hua Zhou, Yang‐Yang Dai, Si‐Fen Xie, Xian‐Guang Lin, Ye‐Peng Hu, Li‐Hong Jiang, Zhan‐Hang Wang, Wei‐Jing Zhang   +11 more
wiley   +1 more source

Isolated P/Q Calcium Channel Deletion in Layer VI Corticothalamic Neurons Generates Absence Epilepsy

Journal of Neuroscience, 2016
Generalized spike-wave seizures involving abnormal synchronization of cortical and underlying thalamic circuitry represent a major category of childhood epilepsy.
V. Bomben, Isamu Aiba, J. Qian, M. Mark, S. Herlitze, J. Noebels   +5 more
semanticscholar   +1 more source

A 3D Biofabricated Disease Model Mimicking the Brain Extracellular Matrix Suitable to Characterize Intrinsic Neuronal Network Alterations in the Presence of a Breast Tumor Disseminated to the Brain

Advanced Functional Materials, EarlyView.
A 3D disease model is developed using customized hyaluronic‐acid‐based hydrogels supplemented with extracellular matrix (ECM) proteins resembling brain ECM properties. Neurons, astrocytes, and tumor cells are used to mimic the native brain surrounding.
Esra Türker, Mateo S. Andrade Mier, Jessica Faber, Mike Friedrich, Zan Lamberger, Jeannette Weigelt, Christian Stigloher, Nicoletta Murenu, Natascha Schaefer, Jörg Tessmar, Gregor Lang, Silvia Budday, Katrin G. Heinze, Antje Appelt‐Menzel, Pamela L. Strissel, Reiner Strick, Carmen Villmann   +16 more
wiley   +1 more source

Long-term prognosis of childhood absence epilepsy

Neurología (English Edition), 2019
Introduction: Childhood absence epilepsy (CAE) is considered easily manageable with medication provided that a strict patient classification system is employed.
C. Martínez-Ferrández, E. Martínez-Salcedo, C. Casas-Fernández, H. Alarcón-Martínez, S. Ibáñez-Micó, R. Domingo-Jiménez   +5 more
doaj   +1 more source

Electrosynthesis of Bioactive Chemicals, From Ions to Pharmaceuticals

Advanced Functional Materials, EarlyView.
This review discusses recent advances in electrosynthesis for biomedical and pharmaceutical applications. It covers key electrochemical materials enabling precise delivery of ions and small molecules for cellular modulation and disease treatment, alongside catalytic systems for pharmaceutical synthesis.
Gwangbin Lee, Sojin Kim, Myeongeun Lee, Kyoungsuk Jin, Jimin Park   +4 more
wiley   +1 more source

Benign Epilepsy in Children

Journal of the Formosan Medical Association, 2011
The diagnosis of benign epilepsy syndrome should meet the following criteria: age-related and self-limited; good response to medication; and no obvious neurological sequelae after seizure. However, the current concept of benign epilepsy syndrome has been
Sook-Cheng Chan, Wang-Tso Lee
doaj   +1 more source

Modulation of the GABAergic pathway for the treatment of fragile X syndrome. [PDF]

, 2014
Fragile X syndrome (FXS) is the most common genetic cause of intellectual disability and the most common single-gene cause of autism. It is caused by mutations on the fragile X mental retardation gene (FMR1) and lack of fragile X mental retardation ...
Hagerman, Randi J, Hare, Emma B, Lozano, Reymundo   +2 more
core   +1 more source

Modular Platform for Rapidly Investigating Long‐Distance Propagation of Human Neural Network Activity

Advanced Healthcare Materials, EarlyView.
This study presents the first human neural organoid culture model capable of rapidly exhibiting long‐distance neural network propagation, thus delivering a system to experimentally investigate large‐scale communication during normal and diseased states.
Megh Dipak Patel, Sailee Sham Lavekar, Ronak Jaisalmeria, Suki Oji, Jazmine Jayasi, Caroline Cvetkovic, Robert Krencik   +6 more
wiley   +1 more source