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,
Štefania 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