TY  - GEN
AU  - Yordanova,Iglika
AU  - Todorov,Tihomir
AU  - Dimova,Petia
AU  - Hristova,Dimitrina
AU  - Tincheva,Radka
AU  - Litvinenko,Ivan
AU  - Yotovska,Olga
AU  - Kremensky,Ivo
AU  - Todorova,Albena
TI  - One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene
SN  - 1872-7972
PY  - 2011///0802
KW  - Age of Onset
KW  - Anticonvulsants
KW  - therapeutic use
KW  - Child
KW  - Child, Preschool
KW  - Electroencephalography
KW  - Epilepsies, Myoclonic
KW  - drug therapy
KW  - Female
KW  - Frameshift Mutation
KW  - Humans
KW  - Infant
KW  - Male
KW  - Mutation, Missense
KW  - NAV1.1 Voltage-Gated Sodium Channel
KW  - Nerve Tissue Proteins
KW  - genetics
KW  - Phenotype
KW  - Sodium Channels
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.neulet.2011.03.008
ER  -