Results 61 to 70 of about 9,985 (188)

Monitoring a hypothetical channelopathy in Chronic Fatigue Syndrome: Preliminary observations

, 2003
This study was aimed at monitoring of a previously suggested channelopathy in Chronic Fatigue Syndrome, and at searching for possible explanations by means of immune system characteristics.
McGregor, Neil, Englebienne, Patrick, Demanet, Christian, Nijs, Jo, De Meirleir, Kenny, Verhas, Michel, De Becker, Pascale   +6 more
core   +1 more source

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

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

Congenital short QT syndrome: Landmarks of the newest arrhythmogenic cardiac channelopathy [PDF]

, 2013
Congenital or familial short QT syndrome is a genetically heterogeneous cardiac channelopathy without structural heart disease that has a dominant autosomal or sporadic pattern of transmission affecting the electric system of the heart.
Paixão-Almeida, Adail; Cardiology and Electrocardiology Service -UNIMEC Hospital– Vitoria da Conquista – Bahia - Brazil, Palandri Chagas, Antônio Carlos; São Paulo University, Instituto do Coração (INCOR), Pérez Riera, Andrés Ricardo; ABC’s Faculty of Medicine, ABC Foundation, Cardiology Discipline, Electro-Vectorcardiogram Sector, Santo André, São Paulo, Brazil, Barbosa-Barros, Raimundo; Coronary Center of the Hospital de Messejana Dr. Carlos Alberto Studart Gomes. Fortaleza- Ceará - Brazil, Yanowitz, Frank G.; Department/Division: Department of Medicine / Cardiology/Geriatrics. University of Utah School of Medicine and Intermountain Healthcare, Salt Lake City, Utah, Dubner, Sergio; Clinica y Maternidad Suizo Argentina, Buenos Aires, Argentina, Baranchuk, Adrian; Queen’s University; Kingston, Ontario, Canada   +6 more
core   +1 more source

Is neuralgia a transcriptional channelopathy?

, 2020
Neuralgia, is a symptom of some neurological disorders and can be found at any age. It is characterized by paroxysmal and lancinating pain that follows the path of the affected nerve. It can be spontaneous or may be triggered by any type of stimuli. This
Gutiérrez-álvarez É.M., Moreno C.B.
core   +1 more source

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

Datasheet1_Whole genome sequencing in paediatric channelopathy and cardiomyopathy.docx

BackgroundPrecision medicine in paediatric cardiac channelopathy and cardiomyopathy has a rapid advancement over the past years. Compared to conventional gene panel and exome-based testing, whole genome sequencing (WGS) offers additional coverage at the ...
Sit Yee Kwok (18185215), Martin Chui (18185224), Connie Fong Ying Shih (18185221), Julia Zhuo Shi (18185218), Sabrina Tsao (18185227), Christopher C. Y. Mak (17105847), Anna Ka Yee Kwong (13211988), Mianne Lee (8779031), Brian Hon Yin Chung (4176865)   +8 more
core   +1 more source

Structural basis of properties, mechanisms, and channelopathy of cyclic nucleotide-gated channels

, 2023
Recent years have seen an outpouring of atomic or near atomic resolution structures of cyclic nucleotide-gated (CNG) channels, captured in closed, transition, pre-open, partially open, and fully open states.
Zhengshan Hu (17307872), Jian Yang (12136)   +1 more
core   +1 more source

Role of electrocardiogram in diagnosis of inherited arrhythmia syndromes [PDF]

Medicinski Podmladak, 2020
The aim of this paper is to define the role of electrocardiogram (ECG) in diagnosis, prognosis and treatment of inherited arrhythmias syndromes. Brugada Syndrome diagnosis is established in presence of coved type ST-segment elevation (type 1) ≥ 2mm in ...
Jurčević Ružica, Angelkov Lazar, Vukajlović Dejan, Ristić Velibor, Kojić Dejan, Tomović Milosav, Grbović Aleksandra, Babić Miloš, Tasić Nebojša, Bojić Milovan   +9 more
doaj  

Rare genetic variation in adults with surgically treated temporal lobe epilepsy: An exome sequencing study

Epilepsia Open, EarlyView.
Abstract Objective To determine the frequency of monogenic variants and pathogenic copy number variants (CNVs) in adults with surgically treated temporal lobe epilepsy (TLE). Methods We performed exome sequencing (ES), including CNV analysis, in 45 adults with TLE who had previously undergone epilepsy surgery.
Antonia P. Pirker, Margot Ernst, Matias Wagner, Silvia B. Bonelli, Karin Trimmel, Judith Jud, Elisabeth Graf, Christian Dorfer, Karl Rössler, Susanne Aull‐Watschinger, Ekaterina Pataraia, Fritz Zimprich, Martin Krenn   +12 more
wiley   +1 more source