Publication details

Phenotypic spectrum of the SCN1A mutation (from febrile seizures to Dravet syndrome)

Authors

ČESKÁ Katarína DANHOFER Pavlína HORÁK Ondřej ŠPANĚLOVÁ Klára KOLÁŘ Senad OŠLEJŠKOVÁ Hana AULICKÁ Štefánia

Year of publication 2022
Type Article in Periodical
Magazine / Source Bratislava Medical Journal - Bratislavské lekárske listy
MU Faculty or unit

Faculty of Medicine

Citation
Web http://www.elis.sk/index.php?page=shop.product_details&flypage=flypage.tpl&product_id=7701&category_id=179&option=com_virtuemart&vmcchk=1&Itemid=1
Doi http://dx.doi.org/10.4149/BLL_2022_076
Keywords Dravet's syndrome; sodium channel; functional analysis; prognosis
Description Dravet's syndrome previously known as severe myoclonic epilepsy in infancy, is classified as epilepsy on a genetic basis (1). 70???80 % of the patients 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). Text in PDF www.elis.sk

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