Results 41 to 50 of about 3,294 (160)

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source

CRISPR/Cas9-Mediated Whole Genomic Wide Knockout Screening Identifies Specific Genes Associated With PM2.5-Induced Mineral Absorption in Liver Toxicity

Frontiers in Bioengineering and Biotechnology, 2021
PM2.5, also known as fine particles, refers to particulate matter with a dynamic diameter of ≦2.5 μm in air pollutants, that carries metals (Zn, Co, Cd) which can pass through the alveolar epithelium and enter the circulatory system and tissues.
Jinfu Peng, Jinfu Peng, Bin Yi, Bin Yi, Mengyao Wang, Jieqiong Tan, Zhijun Huang, Zhijun Huang   +7 more
doaj   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Serial magnetic resonance imaging findings during severe attacks of familial hemiplegic migraine type 2: a case report

BMC Neurology, 2021
Background Hemiplegic migraines represent a heterogeneous disorder with various presentations. Hemiplegic migraines are classified as sporadic or familial based on the presence of family history, but both subtypes have an underlying genetic etiology ...
David Fear, Misha Patel, Ramin Zand
doaj   +1 more source

Identification of Three Potential Prognostic Genes in Platinum-Resistant Ovarian Cancer via Integrated Bioinformatics Analysis

Cancer Management and Research, 2021
Xue Zhang,1– 3 Xuan Wei,1– 3 Gaigai Bai,1– 3 Xueyao Huang,1– 3 Shunxue Hu,4 Hongluan Mao,1– 3 Peishu Liu1– 3 1Department of Obstetrics and Gynecology, Qilu Hospital of Shandong University, Jinan, Shandong, People’s Republic of China; 2Key Laboratory of ...
Zhang X, Wei X, Bai G, Huang X, Hu S, Mao H, Liu P   +6 more
doaj  

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Increased susceptibility to cortical spreading depression in the mouse model of familial hemiplegic migraine type 2.

PLoS Genetics, 2011
Familial hemiplegic migraine type 2 (FHM2) is an autosomal dominant form of migraine with aura that is caused by mutations of the α2-subunit of the Na,K-ATPase, an isoform almost exclusively expressed in astrocytes in the adult brain.
Loredana Leo, Lisa Gherardini, Virginia Barone, Maurizio De Fusco, Daniela Pietrobon, Tommaso Pizzorusso, Giorgio Casari   +6 more
doaj   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

In vivo expression of mutant Atp1a2.

, 2013
Total RNA and protein samples were isolated from brain of wild type (+/+), Atp1a2+/R887 (+/R887) and homozygous Atp1a2R887/R887 (R887/R887) mice at E19.5. A. Left panel. Semi quantitative Atp1a2 RT-PCR (254 bp fragment) on brain cDNA.
Lisa Gherardini (349231), Giorgio Casari (10084), Maurizio De Fusco (349233), Daniela Pietrobon (349234), Tommaso Pizzorusso (61434), Loredana Leo (349230), Virginia Barone (349232)   +6 more
core   +1 more source

A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy.

, 2014
BACKGROUND: Familial hemiplegic migraine (FHM) is a rare autosomal dominant migraine subtype, characterized by fully reversible motor weakness as a specific symptom of aura.
Bassi MT, Prontera P, COSTA, CINZIA, SARCHIELLI, Paola, CALABRESI, PAOLO, DONTI, Emilio, Tonelli A, Cupini LM, CAPRONI, STEFANO, SILIQUINI, SABRINA   +9 more
core   +1 more source