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.

Basic information

Original name

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

Authors

ČESKÁ, Katarína (703 Slovakia, belonging to the institution), Pavlína DANHOFER (203 Czech Republic, belonging to the institution), Ondřej HORÁK (203 Czech Republic, belonging to the institution), Klára ŠPANĚLOVÁ (203 Czech Republic, belonging to the institution), Senad KOLÁŘ (203 Czech Republic, belonging to the institution), Hana OŠLEJŠKOVÁ (203 Czech Republic, belonging to the institution) and Štefánia AULICKÁ (703 Slovakia, belonging to the institution)

Edition

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

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30210 Clinical neurology

Country of publisher

Slovakia

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 1.500

RIV identification code

RIV/00216224:14110/22:00128262

Organization unit

Faculty of Medicine

DOI

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

UT WoS

000812277000004

Keywords in English

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

Abstract

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 and Štefánia AULICKÁ. Phenotypic spectrum of the SCN1A mutation (from febrile seizures to Dravet syndrome). Bratislava Medical Journal - Bratislavské lekárske listy. BRATISLAVA: Univerzita Komenského, 2022, vol. 123, No 7, p. 483-486. ISSN 0006-9248. Available from: 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 and 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, vol.~123, No~7, p.~483-486. ISSN~0006-9248. Available from: https://dx.doi.org/10.4149/BLL\_{}2022\_{}076.

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