Results 101 to 110 of about 351,102 (361)

A Novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy [PDF]

, 2013
Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding α2δ-2 subunit of Voltage Dependent Calcium Channels, is unclear. To date only one CACNA2D2 mutation altering channel functionality has been identified in a single family. In
Alessandra Maresca, Andrea Angius, Andrea Angius, Antonia Parmeggiani, Flavia Palombo, Francesco Cucca, Laura Crisponi, Marco Seri, Maria Lucia Valentino, Rocco Liguori, Tommaso Pippucci, Valerio Carelli   +11 more
core   +4 more sources

Autoimmune Encephalitis in Acute Care—Pathology, Diagnosis, and Management

Advanced Science, EarlyView.
ABSTRACT Autoimmune encephalitis (AE) is characterized by immune‐mediated inflammation of the brain parenchyma, presenting with various neurological syndromes, including but not limited to seizures, altered consciousness, neuropsychiatric symptoms, and movement disorders.
Suneesh Thilak, David Okoh, William Scotton, Shanika Samarasekera, Vikram Patil, Suresh Renukappa, Andrew Macduff, Subashini Suresh, Rajeev Krishnadas, Tonny Veenith   +9 more
wiley   +1 more source

Traditional Chinese Medicine and Ferroptosis in Intracerebral Hemorrhage: A Potential Therapeutic Approach

Drug Design, Development and Therapy
Hanying Xu,1,* Jing Lu,2,* Xiaolei Tang,2 Pengfei Li,3 Lei Wu,4 Jian Wang,1 Ying Zhang,1 Dongmei Zhang5 1Department of Encephalopathy, the Affiliated Hospital of Changchun University of Chinese Medicine, Changchun, Jilin, People’s ...
Xu H, Lu J, Tang X, Li P, Wu L, Wang J, Zhang Y, Zhang D   +7 more
doaj  

Tripartite motif-containing 14 (TRIM14) promotes epithelial-mesenchymal transition via ZEB2 in glioblastoma cells

Journal of Experimental & Clinical Cancer Research, 2019
Background Several members of the tripartite motif-containing (TRIM) protein family have been reported to serve as vital regulators of tumorigenesis. Recent studies have demonstrated an oncogenic role of TRIM 14 in multiple human cancers; however, the ...
Shuang Feng, Xiaomin Cai, Yangyang Li, Xiaoguang Jian, Linxin Zhang, Bin Li   +5 more
doaj   +1 more source

PRICKLE1-related early onset epileptic encephalopathy [PDF]

, 2018
The PRICKLE1 (Prickle Planar Cell Polarity Protein 1-MIM 608500) gene is involved in different phases of human development. The related diseases include autosomal recessive progressive myoclonus epilepsy - ataxia syndrome, neural tube defects associated ...
DI NOIA, S, Leuzzi, V, Martinelli, M, Mastrangelo, M, Parrini, E, Tolve, M   +5 more
core   +1 more source

Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery

Advanced Science, EarlyView.
Human‐relevant methods are essential for modern chemical safety assessment. This study helps define the capabilities and boundaries of an in vitro testing battery for developmental neurotoxicity by exploring its biological applicability domain. By linking neurodevelopmental disease‐related pathways to key neurodevelopmental processes, the work enhances
Eliska Kuchovska, Kristina Bartmann, Georgea Raad, Mats Schade, Luiz Ladeira, Arif Dönmez, Jördis Klose, Nicolai Görts, Denis Polozij, Lynn‐Christin Saborowski, Farina Bendt, Bernard Staumont, Liesbet Geris, Katharina Koch, Ellen Fritsche   +14 more
wiley   +1 more source

Serum Hsp70 antigen: Early diagnosis marker in perinatal asphyxia [PDF]

, 2015
BACKGROUND: Perinatal asphyxia is an important cause of mortality and permanent neurological and developmental deficit. Early and accurate diagnosis would help to establish the likely prognosis and may also help in determining the most appropriate ...
Boskabadi, Hassan, Ferns, Gordon A A, Mobarhan, Majid Ghayour, Mohammadi, Shabnam, Omidian, Masoud, Parizadeh, Mostafa, Tavallai, Shima   +6 more
core   +1 more source

Review for "A cohort study of mild encephalitis/encephalopathy with a reversible splenial lesion in children"

, 2021

openalex   +1 more source

Therapeutic hypothermia to treat neonatal encephalopathy improves childhood outcomes [PDF]

, 2023
Robert L. Barbieri
openalex   +1 more source

Phenotypic Diversity and Outcomes in Pediatric NMDA Receptor Encephalitis: A 15‐Year Retrospective Study from the Largest Children's Hospital in the United States

Advanced Science, EarlyView.
ABSTRACT Anti‐NMDAR encephalitis (NMDARE) is an autoantibody‐mediated disorder characterized by seizures, movement disorders, neurocognitive deficits, and psychosis, but the complete phenotypic heterogeneity, and outcomes are incompletely understood in children.
Alexander J. Sandweiss, Timothy Erickson, Yike Jiang, Varun Kannan, Jonathan M. Yarimi, Kristen S. Fisher, Nikita Shukla, Tim Lotze, Eyal Muscal, Kristy O. Murray   +9 more
wiley   +1 more source