Home General Physiology and Biophysics 2016 General Physiology and Biophysics Vol.35, No.3, p.333–342, 2016

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Quarterly, 80 pp. per issue
Founded: 1982
ISSN  1338-4325 (online)

Published in English

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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

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