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

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F22%3A00076125" target="_blank" >RIV/65269705:_____/22:00076125 - isvavai.cz</a>

Alternative codes found

RIV/00216224:14110/22:00128262

Result on the web

<a href="http://www.elis.sk/index.php" target="_blank" >http://www.elis.sk/index.php</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.4149/BLL_2022_076" target="_blank" >10.4149/BLL_2022_076</a>

Result language

angličtina

Original language name

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

Original language description

Dravet&apos;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&apos;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 specifi c pathogenic sequence variant, we correlated the patient&apos;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.

Czech name

—

Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30209 - Paediatrics

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2022

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Bratislavské Lekárske Listy

ISSN

0006-9248

e-ISSN

1336-0345

Volume of the periodical

123

Issue of the periodical within the volume

7

Country of publishing house

SK - SLOVAKIA

Number of pages

4

Pages from-to

483-486

UT code for WoS article

000812277000004

EID of the result in the Scopus database

2-s2.0-85131431340