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

J 2022

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

ČESKÁ, Katarína, Pavlína DANHOFER, Ondřej HORÁK, Klára ŠPANĚLOVÁ, Senad KOLÁŘ et. al.

Základní údaje

Originální název

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

Autoři

ČESKÁ, Katarína (703 Slovensko, domácí), Pavlína DANHOFER (203 Česká republika, domácí), Ondřej HORÁK (203 Česká republika, domácí), Klára ŠPANĚLOVÁ (203 Česká republika, domácí), Senad KOLÁŘ (203 Česká republika, domácí), Hana OŠLEJŠKOVÁ (203 Česká republika, domácí) a Štefánia AULICKÁ (703 Slovensko, domácí)

Vydání

Bratislava Medical Journal - Bratislavské lekárske listy, BRATISLAVA, Univerzita Komenského, 2022, 0006-9248

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30210 Clinical neurology

Stát vydavatele

Slovensko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 1.500

Kód RIV

RIV/00216224:14110/22:00128262

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.4149/BLL_2022_076

UT WoS

000812277000004

Klíčová slova anglicky

Dravet's syndrome; sodium channel; functional analysis; prognosis

Štítky

14110320, podil, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 2. 2. 2023 13:48, Mgr. Tereza Miškechová

Anotace

V originále

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

Citovat

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). 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.

@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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