Results 11 to 20 of about 2,726 (101)

Na+ channel β subunits: Overachievers of the ion channel family

Frontiers in Pharmacology, 2011
Voltage gated Na+ channels (VGSCs) in mammals contain a pore-forming α subunit and one or more β subunits. There are five mammalian β subunits in total: β1, β1B, β2, β3, and β4, encoded by four genes: SCN1B-SCN4B.
William J Brackenbury, Lori L Isom
doaj   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

Exploring the Genetic Landscape of Chorea in Infancy and Early Childhood: Implications for Diagnosis and Treatment

Current Issues in Molecular Biology
Chorea is a hyperkinetic movement disorder frequently observed in the pediatric population, and, due to advancements in genetic techniques, an increasing number of genes have been associated with this disorder.
Giulia Spoto, Graziana Ceraolo, Ambra Butera, Gabriella Di Rosa, Antonio Gennaro Nicotera   +4 more
doaj   +1 more source

Precision Medicine in Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders: An Update on Emerging Treatments

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of heritable, mostly recessive, progressive neurodegenerative diseases characterized by iron deposition in the basal ganglia and brainstem. There are no solid global epidemiological data on prevalence and incidence of NBIA subtypes, but registry data and ...
Susanne A. Schneider, Divyani Garg, Vassilena Iankova, Thomas Klopstock   +3 more
wiley   +1 more source

Neurosurgical gene therapy for central nervous system diseases

Neurotherapeutics
Viral vector mediated gene therapies for neurodegenerative and neurodevelopmental conditions that require neurosurgical administration continue to expand.
Ruchit V. Patel, Pranav Nanda, R. Mark Richardson   +2 more
doaj   +1 more source

Acute and Chronic Local Field Potential Recordings in Dystonia—A Systematic Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Dystonia is a hyperkinetic movement disorder increasingly conceptualized as a disorder of distributed network dysfunction involving the basal ganglia, cortex and cerebellum. Local field potentials (LFPs) recorded from deep brain stimulation (DBS) electrodes provide a unique opportunity to characterize the electrophysiological signatures ...
Jack Horan, Eoghan Donlon, Aoibheann Gill, Rosalyn Moran, Conor Fearon, Richard A. Walsh, Catherine Moran   +6 more
wiley   +1 more source

DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1‐Related Disease

Movement Disorders, EarlyView.
Abstract Background Cerebellar ataxia, neuropathy and vestibular are flexia syndrome (CANVAS) and RFC1‐related disease are most commonly caused by biallelic AAGGG repeat expansions in RFC1. The high population frequency of this expansion compared to the frequency of CANVAS suggests incomplete penetrance.
Xuemin Wang, Liam G. Fearnley, Kayli C. Davies, Penny Snell, Stuart Lee, Victoria E. Jackson, Justin Read, Michael Milton, Ian H. Harding, Martin B. Delatycki, David J. Szmulewicz, Paul J. Lockhart, Melanie Bahlo, Haloom Rafehi   +13 more
wiley   +1 more source

A Quarter Century of EHD Protein Research: From Endosomal Recycling to Ciliopathies

Traffic, Volume 27, Issue 3, September 2026.
Human EHD protein subcellular localization. ABSTRACT Eps15 homology domain‐containing proteins comprise a conserved family of membrane‐remodeling ATPases that regulate endocytic trafficking, membrane fission, receptor recycling, primary ciliogenesis and membrane dynamics across eukaryotes. Since the initial identification of EHD1 and its Caenorhabditis
Devin Frisby, Gunjan Misri, Naava Naslavsky, Steve Caplan   +3 more
wiley   +1 more source

SIRT Family: Biological Functions and Therapeutic Targets

MedComm, Volume 7, Issue 8, August 2026.
SIRT1–SIRT7 networks from transgenic mice to human‑relevant therapeutic targets. SIRT1–SIRT7 form an isoform‑, organ‑, and disease‑specific regulatory network. Transgenic Sirt1–7 mouse models define central regulatory SIRTs (SIRT1, SIRT3, SIRT6), context‑dependent modifiers (SIRT2, SIRT4, SIRT5, SIRT7), and their key mechanisms and target organs. These
Jia‐Yi Wang, Feng‐Li Jiang, Fang‐Yuan Zhang, Dong‐Hui Huang, Xiao‐Ying Li, Song Gao, Hua You, Qi‐Jun Wu, Huan‐Huan Chen, Ting‐Ting Gong   +9 more
wiley   +1 more source