Home Bratislava Medical Journal 2022 Bratislava Medical Journal Vol.123, No.7, p.483–486, 2022

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Published Monthly, in English
Founded: 1919
ISSN 0006-9248
(E)ISSN 1336-0345

Impact factor 1.2

 

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Bratislava Medical Journal Vol.123, No.7, p.483–486, 2022

Title: Phenotypic spectrum of the SCN1A mutation (from febrile seizures to Dravet syndrome)
Author: Katarina CESKA, Pavlina DANHOFER, Ondrej HORAK, Klara SPANELOVA, Senad KOLAR, Hana OSLEJSKOVA, Stefania AULICKA

Abstract: with the Dravet’s syndrome phenotype are associated with the detection of a sequence variant in the SCN1A gene (alpha 1 subunit of the voltage-gated sodium channel) (2). However, sequence variants in the SCN1A gene are associated with a very broad clinical spectrum, from asymptomatic carriers to the severe myoclonic epilepsy phenotype with severe disease (3).
In the presented work, we retrospectively evaluated a group of 6 patients of the Department of Pediatric Neurology of the Medical Faculty of Masaryk University and the University Hospital in Brno with a proven missense mutation. Based on the specific pathogenic sequence variant, we correlated the patient’s phenotype with the location of the sequence variant in the SCN1A gene. The aim of the analysis was to verify the extent, to which the storage of a pathogenic sequence variant in the SCN1A gene corresponds to the clinical picture of the patient (Tab. 2, Fig. 2, Ref. 10).

Keywords: Dravet‘s syndrome, sodium channel, functional analysis, prognosis
Published online: 06-Jun-2022
Year: 2022, Volume: 123, Issue: 7 Page From: 483, Page To: 486
doi:10.4149/BLL_2022_076


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