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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216224:14110/22:00128262

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30209 - Paediatrics

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2022

Kód důvěrnosti údajů

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

Název periodika

Bratislavské Lekárske Listy

ISSN

0006-9248

e-ISSN

1336-0345

Svazek periodika

123

Číslo periodika v rámci svazku

7

Stát vydavatele periodika

SK - Slovenská republika

Počet stran výsledku

4

Strana od-do

483-486

Kód UT WoS článku

000812277000004

EID výsledku v databázi Scopus

2-s2.0-85131431340