Results 91 to 100 of about 8,423 (186)
Unexpected Efficacy of a Novel Sodium Channel Modulator in Dravet Syndrome
Scientific Reports, 2017 Dravet syndrome, an epileptic encephalopathy affecting children, largely results from heterozygous loss-of-function mutations in the brain voltage-gated sodium channel gene SCN1A.
Lyndsey L. Anderson +4 more
doaj +1 more source
SCN1A Mutations: Role in Epilepsy Management
, 2022 Trabalho Final do Mestrado Integrado em Medicina apresentado à Faculdade de MedicinaThe SCN1A gene encodes the alpha subunit of the NaV1.1 sodium channel, which regulates sodium transport at the inhibitory interneurons.
Diniz, Daniela dos Santos
core
SCN1A and Its Related Epileptic Phenotypes
, 2023 Epilepsy is one of themost common neurological disorders, with a lifetime incidence of 1 in 26. Approximately two-thirds of epilepsy has a substantial genetic component in its etiology.
Sullo F. +9 more
core +1 more source
Genetic testing practices across European epilepsy centers: An ERN EpiCARE survey
Epilepsia Open, EarlyView.Abstract Objective Genetic testing plays an increasing role in the diagnostic pathway for rare and complex epilepsies. However, significant heterogeneity persists in access, implementation, and interpretation across Europe. This study aimed to assess genetic testing practices, accessibility, and challenges across expert epilepsy centers within the ...
Sébile Tchaicha +11 more
wiley +1 more source
, 2005 Copyright © 2005 Wiley-Liss, Inc.SCN1A is part of the SCN1A-SCN2A-SCN3A gene cluster on chromosome 2q24 that encodes for alpha pore forming subunits of sodium channels. The 26 exons of SCN1A are spread over 100 kb of genomic DNA.
Mulley, J. +5 more
core +1 more source
SCN1A‐related phenotypes: Epilepsy and beyond [PDF]
, 2019 SCN1A, encoding the alpha 1 subunit of the sodium channel, is associated with several epilepsy syndromes and a range of other diseases. SCN1A represents the archetypal channelopathy associated with a wide phenotypic spectrum of epilepsies ranging from ...
Ingrid E. Scheffer +3 more
core +1 more source
Epilepsia Open, EarlyView.Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi +10 more
wiley +1 more source
Epilepsia Open, EarlyView.Abstract Objective Variants in the HCN1 gene cause a syndrome of childhood epilepsy and developmental disability with a broad phenotypic range. Many affected children manifest with early infantile epileptic encephalopathy (EIEE) and highly drug‐resistant epilepsy.
Marium N. Khan, Nicholas P. Poolos
wiley +1 more source
Epilepsia Open, EarlyView.This graphical abstract provides an overview of the content from this post hoc analysis describing the trajectories of fenfluramine effectiveness and safety, along with dose changes over time, in patients with Lennox‐Gastaut syndrome. Abstract In the phase 3 randomized controlled trial (RCT; NCT03355209) of fenfluramine in Lennox–Gastaut syndrome (LGS),
Rima Nabbout +14 more
wiley +1 more source
Epilepsia Open, EarlyView.Abstract Objective Dravet syndrome (DS) is a rare early‐onset developmental and epileptic encephalopathy with persistent delays between seizure onset and diagnosis. The DS'coverED study aimed to characterize current diagnostic timelines by examining each step and its duration, identifying residual barriers, and actionable solutions to optimize the ...
Loucas Christodoulou +9 more
wiley +1 more source