Results 61 to 70 of about 16,999 (238)

Development and Retrospective Application of Novel Outcome Measure: Sturge–Weber Syndrome Acute Crisis (SWAC) Index

open access: yesAnnals of the Child Neurology Society, EarlyView.
ABSTRACT Objective Sturge–Weber syndrome (SWS) symptoms frequently overlap in neurological acute crises (ACs) presenting with seizures, stroke‐like episodes (SLE), and headaches. Recent efforts to develop a prospective drug trial highlighted the need for a new outcome measure capable of quantifying these symptoms during an SWS AC.
Kieran D. McKenney   +3 more
wiley   +1 more source

Confirmation of Cause of Death Via Comprehensive Autopsy and Whole Exome Molecular Sequencing in People With Epilepsy and Sudden Unexpected Death

open access: yesJournal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2021
Background Sudden cardiac arrest is the leading mode of death in the United States. Epilepsy affects 1% of Americans; yet epidemiological data show a prevalence of 4% in cases of sudden cardiac arrest.
C. Anwar A. Chahal   +17 more
doaj   +1 more source

Monomorphic Ventricular Arrhythmias in Athletes. [PDF]

open access: yes, 2019
Ventricular arrhythmias are challenging to manage in athletes with concern for an elevated risk of sudden cardiac death (SCD) during sports competition. Monomorphic ventricular arrhythmias (MMVA), while often benign in athletes with a structurally normal
Aboulhosn, Jamil A   +8 more
core   +2 more sources

Association of BMI with adherence and outcome in heart failure patients treated with wearable cardioverter defibrillator

open access: yesESC Heart Failure, Volume 12, Issue 2, Page 1295-1303, April 2025.
Abstract Background Obesity is a known risk factor for cardiovascular disease (CVD), yet an ‘obesity paradox’ has been observed in various CVD contexts. The impact of obesity on heart failure (HF) patients treated with a wearable cardioverter‐defibrillator (WCD) remains underexplored.
Mohammad Abumayyaleh   +18 more
wiley   +1 more source

Challenges and innovation: Disease modeling using human-induced pluripotent stem cell-derived cardiomyocytes

open access: yesFrontiers in Cardiovascular Medicine, 2022
Disease modeling using human-induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) has both challenges and promise. While patient-derived iPSC-CMs provide a unique opportunity for disease modeling with isogenic cells, the challenge is that ...
Louise Reilly   +4 more
doaj   +1 more source

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan   +20 more
wiley   +1 more source

Identification of N-terminal protein acetylation and arginine methylation of the voltage-gated sodium channel in end-stage heart failure human heart [PDF]

open access: yes, 2014
The α subunit of the cardiac voltage-gated sodium channel, Naᵥ1.5, provides the rapid sodium inward current that initiates cardiomyocyte action potentials.
Batlle, Montserrat   +13 more
core   +2 more sources

Long‐lasting remodeling of astrocytes in an Scna1+/− mouse model of Dravet syndrome

open access: yesEpilepsia, EarlyView.
Abstract Objective Dravet syndrome (DS) is a prototypical developmental and epileptic encephalopathy caused by mutations in the SCN1A gene, leading to loss of function of the voltage‐gated sodium channel Naᵥ1.1. The latter causes early onset drug‐resistant seizures and enduring cognitive and behavioral deficits.
Athénaïs Genin   +10 more
wiley   +1 more source

TRPV4-mediated channelopathies [PDF]

open access: yesChannels, 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   +2 more
openaire   +2 more sources

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

open access: yesEpilepsia, EarlyView.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli   +43 more
wiley   +1 more source

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