Journal info
Aims and Scope |
||
Select Journal
Journals
Bratislava Medical Journal Endocrine Regulations General Physiology and Biophysics 2024 2023 2022 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 2011 2010 2009 2008 2007 Neoplasma Acta Virologica Studia Psychologica Cardiology Letters Psychológia a patopsych. dieťaťa Kovove Materialy-Metallic Materials Slovenská hudbaWebshop Cart
Your Cart is currently empty.
Info: Your browser does not accept cookies. To put products into your cart and purchase them you need to enable cookies.
General Physiology and Biophysics Vol.35, No.3, p.333–342, 2016 |
||
Title: Novel SCN1A variants in Dravet syndrome and evaluating a wide approach of patient selection | ||
Author: Milan Surovy, Andrea Soltysova, Miriam Kolnikova, Pavol Sykora, Denisa Ilencikova, Andrej Ficek, Jan Radvanszky, Ludevit Kadasi | ||
Abstract: Voltage-gated sodium channels are essential for generation and propagation of the action potential mainly in nerve and muscle cells. Causative variants in SCN1A gene which codes the main, pore-forming subunit of the channel expressed in central nervous system are associated predominantly with Dravet syndrome (DS), as well as with generalized epilepsy with febrile seizures plus (GEFS+) making it one of the most significant epilepsy gene. Our goal was to determine whether SCN1A screening is relevant in patients with a broad range of epileptic syndromes. 52 patients diagnosed with DS, GEFS+ or similar types of epileptic syndromes were included. Sequencing of the protein-coding parts of the gene complemented with MLPA analysis was carried out. One already described nonsense variant, four novel protein truncating variants and a deletion encompassing the whole SCN1A gene were revealed, all in heterozygous state. All identified variants were found in DS patients with 85.7% sensitivity, thus supporting the role of profound SCN1A gene variants in etiology of DS phenotype. No causative variants were identified in any of non-DS epileptic patients in our cohort, suggesting a minor, but not irrelevant role for SCN1A in patients with other types of childhood epilepsy. |
||
Keywords: Dravet syndrome — Early onset epilepsy — SCN1A — GEFS+ | ||
Published online: 13-Jun-2016 | ||
Year: 2016, Volume: 35, Issue: 3 | Page From: 333, Page To: 342 | |
doi:10.4149/gpb_2016002 |
||
|
![]() |
|