Open AccessPhenotypic spectrum of the SCN1A mutation (from febrile seizures to Dravet syndrome)
Author(s) -
Katarina CESKA,
Pavlina DANHOFER,
Ondřej Horák,
Klara SPANELOVA,
Senad KOLAR,
Hana Ošlejšková,
Štefánia Aulická
Publication year - 2022
Publication title -
bratislavské lekárske listy/bratislava medical journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.387
H-Index - 32
eISSN - 1336-0345
pISSN - 0006-9248
DOI - 10.4149/bll_2022_076
Subject(s) - dravet syndrome , missense mutation , epilepsy , phenotype , genetics , gene , sodium channel , mutation , neurology , myoclonic epilepsy , medicine , sequence (biology) , biology , pediatrics , neuroscience , chemistry , organic chemistry , sodium
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