One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene.

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