Results 71 to 80 of about 16,843 (240)

Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations [PDF]

, 2010
Objective: The phenotype associated with heterozygous HNF4A gene mutations has recently been extended to include diazoxide responsive neonatal hypoglycemia in addition to maturity-onset diabetes of the young (MODY).
Ashcroft, B Schwahn, Clayton, D Cody, Ellard, Freeman, G Mali, I Banerjee, J P H Shield, K Hussain, Molven, N Murphy, O Rubio-Cabezas, R R Kapoor, S E Flanagan, S Ellard, Stanley, T Akcay, T Siahanidou, Thomas   +19 more
core   +2 more sources

TRPV4-mediated channelopathies [PDF]

Channels, 2010
Transient receptor potential vanilloid sub type 4 (TRPV4) is a member of non-selective cation channel that is important for sensation of several physical and chemical stimuli and also involved in multiple physiological functions. Recently it gained immense medical and clinical interest as several independent studies have demonstrated that mutations in ...
Pratibha, Verma, Ashutosh, Kumar, Chandan, Goswami   +2 more
openaire   +2 more sources

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

Phenotypic Variability of Andersen–Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene—A New Family Case Report

Biomolecules
Andersen–Tawil syndrome (ATS) is a multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, prolonged QT interval, and facial dysmorphisms occurring in the first/second decade of life.
Maria Elena Onore, Esther Picillo, Paola D’Ambrosio, Salvatore Morra, Vincenzo Nigro, Luisa Politano   +5 more
doaj   +1 more source

Artificial intelligence in preclinical epilepsy research: Current state, potential, and challenges

Epilepsia Open, EarlyView.
Abstract Preclinical translational epilepsy research uses animal models to better understand the mechanisms underlying epilepsy and its comorbidities, as well as to analyze and develop potential treatments that may mitigate this neurological disorder and its associated conditions. Artificial intelligence (AI) has emerged as a transformative tool across
Jesús Servando Medel‐Matus, Cesar Santana‐Gomez, Ruby G. Escalante, Dominique Duncan, Pedro F. Viana, Giulia Sofia Cereda, Naoto Kuroda, Aristea S. Galanopoulou   +7 more
wiley   +1 more source

Sudden unexpected death in epilepsy (SUDEP): Risk management of pediatric patients with epilepsy

Epilepsia Open, EarlyView.
Abstract Objective Sudden unexpected death in epilepsy (SUDEP) is the leading cause of death in people with epilepsy with an incidence of 1:1000. The primary risk factors for SUDEP are generalized or focal to bilateral tonic–clonic seizures. Preventive measures like nighttime monitoring devices and resuscitation training address modifiable risk factors.
Laura Lutz, Lena Luise Becker, Alwina Koch, Angela M. Kaindl   +3 more
wiley   +1 more source

Dravet syndrome patient‐derived neurons suggest a novel epilepsy mechanism [PDF]

, 2013
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/99647/1/ana23897 ...
Gupta, Ajay, Isom, Lori L., Jones, Julie M., Liu, Yu, Lopez‐santiago, Luis F., Meisler, Miriam H., Natowicz, Marvin R., O'Brien, Janelle E., O'Malley, Heather A., Parent, Jack M., Patino, Gustavo A., Rusconi, Raffaella, Thompson, Robert C., Yuan, Yukun, Zhang, Helen   +14 more
core   +1 more source

Is It Safe for Patients With Cardiac Channelopathies to Undergo Routine Dental Care? Experience From a Single‐Center Study

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2019
Background Brugada syndrome and long‐QT syndrome may account for at least one third of unexplained sudden cardiac deaths. Dental care in patients with cardiac channelopathies is challenging because of the potential risk of life‐threatening events.
Ana Carolina Guimarães Oliveira, Itamara Lucia Itagiba Neves, Luciana Sacilotto, Natália Quintella Sangiorgi Olivetti, Marcela Alves dos Santos‐Paul, Tânia Cristina Pedroso Montano, Cíntia Maria Alencar Carvalho, Tan Chen Wu, Cesar José Grupi, Sílvio Alves Barbosa, Carlos Alberto Pastore, Nelson Samesima, Denise Tessariol Hachul, Maurício Ibrahim Scanavacca, Ricardo Simões Neves, Francisco Carlos Costa Darrieux   +15 more
doaj   +1 more source

Gene therapy and editing: Novel potential treatments for neuronal channelopathies. [PDF]

, 2017
Pharmaceutical treatment can be inadequate, non-effective, or intolerable for many people suffering from a neuronal channelopathy. Development of novel treatment options, particularly those with the potential to be curative is warranted.
Lignani, G, Wykes, RC
core   +2 more sources

Efficacy of Retigabine in Treating Weakness in a Mouse Model of Hypokalemic Periodic Paralysis

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Hypokalemic periodic paralysis (HypoKPP) is an ion channelopathy causing episodic skeletal muscle weakness triggered by hypokalemia. Reduced inward rectifier K+ (Kir) channel activity contributes to membrane depolarization and paralysis, suggesting that pharmacologic activation of muscle K+ channels may restore excitability ...
Kirsten Denman, Mark M. Rich
wiley   +1 more source