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@article{2249581,
author = {Česká, Katarína and Danhofer, Pavlína and Horák, Ondřej and Španělová, Klára and Kolář, Senad and Ošlejšková, Hana and Aulická, Štefánia},
article_location = {BRATISLAVA},
article_number = {7},
doi = {http://dx.doi.org/10.4149/BLL_2022_076},
keywords = {Dravet's syndrome; sodium channel; functional analysis; prognosis},
language = {eng},
issn = {0006-9248},
journal = {Bratislava Medical Journal - Bratislavské lekárske listy},
title = {Phenotypic spectrum of the SCN1A mutation (from febrile seizures to Dravet syndrome)},
url = {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},
volume = {123},
year = {2022}
}
TY - JOUR
ID - 2249581
AU - Česká, Katarína - Danhofer, Pavlína - Horák, Ondřej - Španělová, Klára - Kolář, Senad - Ošlejšková, Hana - Aulická, Štefánia
PY - 2022
TI - Phenotypic spectrum of the SCN1A mutation (from febrile seizures to Dravet syndrome)
JF - Bratislava Medical Journal - Bratislavské lekárske listy
VL - 123
IS - 7
SP - 483-486
EP - 483-486
PB - Univerzita Komenského
SN - 00069248
KW - Dravet's syndrome
KW - sodium channel
KW - functional analysis
KW - prognosis
UR - 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
N2 - 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
ER -
ČESKÁ, Katarína, Pavlína DANHOFER, Ondřej HORÁK, Klára ŠPANĚLOVÁ, Senad KOLÁŘ, Hana OŠLEJŠKOVÁ a Štefánia AULICKÁ. Phenotypic spectrum of the SCN1A mutation (from febrile seizures to Dravet syndrome). \textit{Bratislava Medical Journal - Bratislavské lekárske listy}. BRATISLAVA: Univerzita Komenského, 2022, roč.~123, č.~7, s.~483-486. ISSN~0006-9248. Dostupné z: https://dx.doi.org/10.4149/BLL\_{}2022\_{}076.
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