Results 1 to 10 of about 4,652 (165)

Efficacy of Anti-seizure Medications, Quinidine, and Ketogenic Diet Therapy for KCNT1-Related Epilepsy and Genotype-Efficacy Correlation Analysis

open access: yesFrontiers in Neurology, 2022
AimTo evaluate the efficacy of anti-seizure medications (ASMs), quinidine, and ketogenic diet therapy (KDT) for KCNT1-related epilepsy and to explore genotype-efficacy correlations.MethodsWe collected the data for KCNT1-related epilepsy cases from our ...
Zehong Lin   +30 more
doaj   +1 more source

Cardiocerebral channelopathy caused by KCND3 mutation in a child: A case report

open access: yesFrontiers in Pediatrics, 2022
Early repolarization syndrome is rare in children. Mutation of genes encoding ion channels could display mixed electrophysiological phenotype of Kv4.3 including both cardiac phenotype (early repolarization syndrome, atrial fibrillation) and cerebral ...
Yi Zhang, He Jiang, Xiao-mei Li
doaj   +1 more source

A case report of pitfall of fever and altered mental status: cerebral malaria due to in an adult traveler returning from Congo [PDF]

open access: yesJournal of Neurocritical Care, 2023
Background Cerebral malaria, caused by Plasmodium falciparum, can lead to severe neurological complications. It is more frequently observed in children than in adults.
Soo-Hyun Park   +4 more
doaj   +1 more source

Case Report of Novel Genetic Variant in KCNT1 Channel and Pharmacological Treatment With Quinidine. Precision Medicine in Refractory Epilepsy

open access: yesFrontiers in Pharmacology, 2021
Case introduction: In this work we present a female infant patient with epilepsy of infancy with migrating focal seizures (EIMFS). Although many pharmacological schemes were attempted, she developed an encephalopathy with poor response to antiepileptic ...
M. C. Kravetz   +6 more
doaj   +1 more source

The diagnostic role of T wave morphology biomarkers in congenital and acquired long QT syndrome: A systematic review

open access: yesAnnals of Noninvasive Electrocardiology, Volume 28, Issue 1, January 2023., 2023
Numerous T wave morphology biomarkers, which can supplement QTc assessment in long QT syndrome (LQTS), have been identified. Their diagnostic capabilities include differentiation of genotypes, identification of concealed LQTS, differentiating acquired LQTS from congenital LQTS; and determining multichannel versus hERG channel blockade.
Daniel T. Tardo   +4 more
wiley   +1 more source

Canine and feline P‐glycoprotein deficiency: What we know and where we need to go

open access: yesJournal of Veterinary Pharmacology and Therapeutics, Volume 46, Issue 1, Page 1-16, January 2023., 2023
Abstract In 2001 the molecular genetic basis of so‐called “ivermectin sensitivity” in herding breed dogs was determined to be a P‐glycoprotein deficiency caused by a genetic variant of the MDR1 (ABCB1) gene often called “the MDR1 mutation.” We have learned a great deal about P‐glycoprotein's role in drug disposition since that discovery, namely that P ...
Katrina L. Mealey   +2 more
wiley   +1 more source

Effects of Antiarrhythmic Drugs on hERG Gating in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes From a Patient With Short QT Syndrome Type 1

open access: yesFrontiers in Pharmacology, 2021
Aims: The short QT syndrome type 1 (SQT1) is linked to hERG channel mutations (e.g., N588K). Drug effects on hERG channel gating kinetics in SQT1-cells have not been investigated.Methods: This study used hiPSC-CMs of a healthy donor and a SQT1-patient ...
Mengying Huang   +23 more
doaj   +1 more source

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

open access: yes, 2022
Hepatology, EarlyView.
Robert J. Fontana   +6 more
wiley   +1 more source

CAQ Corner: Basic concepts of transplant immunology

open access: yes, 2022
Liver Transplantation, EarlyView.
Amanda Cheung, Josh Levitsky
wiley   +1 more source

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