Results 71 to 80 of about 11,955 (223)

Extended spectrum of Cav1.3 channelopathies

, 2022
Commentary to the article: Germline de novo variant F747S extends the phenotypic spectrum of CACNA1D Ca2+ channelopathies (Török et al., Hum. Mol. Genet. https://doi.org/10.1093/hmg/ddac248)Fil: Mustafá, Emilio Román. Charles University; República Checa.
Weiss, Norbert, Mustafá, Emilio Román
core   +1 more source

Kv1.1 deficiency alters repetitive and social behaviors in mice and rescues autistic‐like behaviors due to Scn2a haploinsufficiency

Brain and Behavior, 2021
Background Autism spectrum disorder (ASD) and epilepsy are highly comorbid, suggesting potential overlap in genetic etiology, pathophysiology, and neurodevelopmental abnormalities; however, the nature of this relationship remains unclear.
Jagadeeswaran Indumathy, April Pruitt, Nicole M. Gautier, Kaitlin Crane, Edward Glasscock   +4 more
doaj   +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

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

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

Adolescence and Cardiac Channelopathies: Predicting Engagement in High-Risk Behavior [PDF]

, 2018
The purpose of the current study was to explore the type and frequency of engagement in low to high-risk behaviors in adolescents with cardiac channelopathies.
Lucente, Lauren
core   +1 more source

Molecular genetics of skeletal muscle channelopathies [PDF]

Kubota T., Takahashi M.P.. Molecular genetics of skeletal muscle channelopathies. Journal of Human Genetics (2025); https://doi.org/10.1038/s10038-025-01370-w.Skeletal muscle channelopathies are genetic disorders associated with variants in genes ...
Kubota, Tomoya, Takahashi, Masanori P.
core   +1 more source

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

Precision Medicine and cardiac channelopathies: when dreams meet reality

, 2021
Precision Medicine (PM) is an innovative approach that, by relying on large populations' datasets, patients' genetics and characteristics, and advanced technologies, aims at improving risk stratification and at identifying patient-specific management ...
Gnecchi, Massimiliano, Sala, Luca, Schwartz, Peter J   +2 more
core   +1 more source