Yordanova, Iglika

One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene. [electronic resource] - Neuroscience letters Apr 2011 - 180-3 p. digital

Publication Type: Case Reports; Journal Article

1872-7972

10.1016/j.neulet.2011.03.008 doi


Age of Onset
Anticonvulsants--therapeutic use
Child
Child, Preschool
Electroencephalography
Epilepsies, Myoclonic--drug therapy
Female
Frameshift Mutation
Humans
Infant
Male
Mutation, Missense
NAV1.1 Voltage-Gated Sodium Channel
Nerve Tissue Proteins--genetics
Phenotype
Sodium Channels--genetics